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Wyszukujesz frazę ""Exome sequencing"" wg kryterium: Temat


Tytuł :
Whole exome sequencing applied to 42 Han Chinese patients with posterior hypospadias.
Autorzy :
Shaomei W; The Second School of Clinical Medicine, Southern Medical University, Guangzhou 510282, Guangdong, China; Department of Pediatric Surgery, Nanhai Meternity&Child Healthcare Hospital of Foshan, Foshan 528200, Guangdong, China.
Yongbin P; Department of Pediatric Surgery, Nanhai Meternity&Child Healthcare Hospital of Foshan, Foshan 528200, Guangdong, China.
Daiyue Y; Department of Pediatric Surgery, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, Guangdong, China.
Zhaorong H; Department of Pediatric Surgery, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, Guangdong, China.
Huirong Y; Department of Pediatric Surgery, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, Guangdong, China.
Nan L; Department of Pediatric Surgery, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, Guangdong, China.
Huanbin L; Department of Pediatric Surgery, Nanhai Meternity&Child Healthcare Hospital of Foshan, Foshan 528200, Guangdong, China.
Yuzhu L; Department of Pediatric Surgery, Nanhai Meternity&Child Healthcare Hospital of Foshan, Foshan 528200, Guangdong, China.
Kai W; Department of Pediatric Surgery, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, Guangdong, China. Electronic address: .
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Źródło :
Steroids [Steroids] 2022 Aug; Vol. 184, pp. 109041. Date of Electronic Publication: 2022 May 10.
Typ publikacji :
Journal Article
MeSH Terms :
Hypospadias*/genetics
Whole Exome Sequencing*
Asians/genetics ; Child ; China ; Humans ; Male ; Mutation
Czasopismo naukowe
Tytuł :
Challenges in variant interpretation in prenatal exome sequencing.
Autorzy :
Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Felsenstein Medical Research Center, Petach Tikva, Israel. Electronic address: .
Sukenik-Halevy R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Genetics Institute, Meir Medical Center, Kfar Saba, Israel.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2022 Feb; Vol. 65 (2), pp. 104410. Date of Electronic Publication: 2021 Dec 21.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Prenatal Diagnosis/*methods
Whole Exome Sequencing/*methods
Female ; Humans ; Mutation ; Phenotype ; Pregnancy ; Prenatal Diagnosis/standards ; Whole Exome Sequencing/standards
Czasopismo naukowe
Tytuł :
Association of varicose veins with rare protein-truncating variants in PIEZO1 identified by exome sequencing of a large clinical population.
Autorzy :
Smelser DT; Department of Molecular and Functional Genomics, Geisinger Medical Center, Danville, Pa. Electronic address: .
Haley JS; Department of Molecular and Functional Genomics, Geisinger Medical Center, Danville, Pa.
Ryer EJ; Department of Vascular and Endovascular Surgery, Geisinger Medical Center, Danville, Pa.
Elmore JR; Department of Vascular and Endovascular Surgery, Geisinger Medical Center, Danville, Pa.
Cook AM; Department of Molecular and Functional Genomics, Geisinger Medical Center, Danville, Pa.
Carey DJ; Department of Molecular and Functional Genomics, Geisinger Medical Center, Danville, Pa.
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Źródło :
Journal of vascular surgery. Venous and lymphatic disorders [J Vasc Surg Venous Lymphat Disord] 2022 Mar; Vol. 10 (2), pp. 382-389.e2. Date of Electronic Publication: 2021 Aug 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Mutational Analysis*
Frameshift Mutation*
Whole Exome Sequencing*
Ion Channels/*genetics
Varicose Veins/*surgery
Adult ; Aged ; Electronic Health Records ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Phenotype ; Predictive Value of Tests ; Prognosis ; Retrospective Studies ; Varicose Veins/diagnostic imaging ; Varicose Veins/therapy
Czasopismo naukowe
Tytuł :
Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.
Autorzy :
Malakootian M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Jalilian M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Kalayinia S; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Hosseini Moghadam M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Heidarali M; Cardiac Electrophysiology Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Vali-Asr St, Hashemi-Rafsanjani Blvd, Tehran, Iran.
Haghjoo M; Cardiac Electrophysiology Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Vali-Asr St, Hashemi-Rafsanjani Blvd, Tehran, Iran. .
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Źródło :
BMC cardiovascular disorders [BMC Cardiovasc Disord] 2022 Feb 11; Vol. 22 (1), pp. 37. Date of Electronic Publication: 2022 Feb 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Mutational Analysis*
Mutation, Missense*
Whole Exome Sequencing*
Atrial Fibrillation/*genetics
Dystrophin-Associated Proteins/*genetics
Heart Rate/*genetics
Neuropeptides/*genetics
Adolescent ; Atrial Fibrillation/diagnosis ; Atrial Fibrillation/physiopathology ; Electrocardiography ; Female ; Genetic Predisposition to Disease ; Heredity ; Humans ; Iran ; Male ; Middle Aged ; Pedigree ; Phenotype ; Predictive Value of Tests ; Young Adult
Czasopismo naukowe
Tytuł :
Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.
Autorzy :
Erjavec SO; Department of Genetics & Development, Columbia University, New York, NY, USA.; Department of Dermatology, Columbia University, New York, NY, USA.
Gelfman S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Abdelaziz AR; Department of Dermatology, Columbia University, New York, NY, USA.; Department of Nutritional and Metabolic Energy, Columbia University, New York, NY, USA.; MEND Nutrition, Inc., New York, NY, USA.
Lee EY; Department of Dermatology, Columbia University, New York, NY, USA.; Medical Scientist Training Program, Columbia University, New York, NY, USA.
Monga I; Department of Dermatology, Columbia University, New York, NY, USA.
Alkelai A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Ionita-Laza I; Department of Biostatistics, Columbia University, New York, NY, USA.
Petukhova L; Department of Dermatology, Columbia University, New York, NY, USA.; Department of Epidemiology, Columbia University, New York, NY, USA.
Christiano AM; Department of Genetics & Development, Columbia University, New York, NY, USA. .; Department of Dermatology, Columbia University, New York, NY, USA. .
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Źródło :
Nature communications [Nat Commun] 2022 Feb 10; Vol. 13 (1), pp. 800. Date of Electronic Publication: 2022 Feb 10.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Whole Exome Sequencing*
Alopecia Areata/*genetics
Alopecia Areata/*metabolism
Keratins, Hair-Specific/*genetics
Keratins, Type II/*genetics
Genetic Predisposition to Disease ; Genetic Variation ; Hair/metabolism ; Hair Follicle/metabolism ; Humans ; Skin/metabolism
Czasopismo naukowe
Tytuł :
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Autorzy :
Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.
Gable DL; Department of Pediatrics, Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Child Neurology Residency Training Program, Boston Children's Hospital, Boston, Massachusetts, USA.
Love-Nichols J; Department of Genetics, Seattle Children's Hospital, Seattle, Washington, USA.
Tsao A; Marsh & McLennan Agency, White Plains, New York, USA.
Rockowitz S; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Molecular Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
Sliz P; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Barkoudah E; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Bastianelli L; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA.
Coulter D; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Davidson E; Department of Pediatrics, Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Developmental Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
DeGusmao C; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Fogelman D; Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital, Boston, Massachusetts, USA.
Huth K; Department of Pediatrics, Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Marshall P; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Nimec D; Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital, Boston, Massachusetts, USA.
Sanders JS; Department of Neurology, Denver Children's Hospital, Denver, Colorado, USA.
Shore BJ; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA.
Snyder B; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA.
Stone SSD; Department of Neurosurgery, Boston Children's Hospital, Boston, Massachusetts, USA.
Ubeda A; Department of Physical Medicine and Rehabilitation, Spaulding Rehabilitation Hospital, Boston, Massachusetts, USA.
Watkins C; Department of Orthopedics, Boston Children's Hospital, Boston, Massachusetts, USA.
Berde C; Department of Anesthesiology, Boston Children's Hospital, Boston, Massachusetts, USA.
Bolton J; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Brownstein C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Costigan M; Department of Neurobiology, Boston Children's Hospital, Boston, Massachusetts, USA.
Ebrahimi-Fakhari D; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Lai A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
O'Donnell-Luria A; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Paciorkowski AR; Departments of Neurology, Pediatrics, Biomedical Genetics, and Neuroscience, University of Rochester Medical Center, Rochester, New York, USA.
Pinto A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Pugh J; Department of Neurology, Bernard and Millie Duker Children's Hospital, Albany Medical Center, Albany, New York, USA.
Rodan L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Roe E; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Swanson L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Zhang B; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Kruer MC; Department of Neurology and Pediatrics, Phoenix Children's Hospital, Phoenix, Arizona, USA.
Sahin M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.
Poduri A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
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Źródło :
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Feb; Vol. 9 (2), pp. 193-205. Date of Electronic Publication: 2022 Jan 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Whole Exome Sequencing*
Cerebral Palsy/*genetics
Genetic Predisposition to Disease/*genetics
Adolescent ; Cerebral Palsy/diagnosis ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Male
Czasopismo naukowe
Tytuł :
Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis.
Autorzy :
Jose M; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology (SCTIMST), Thiruvananthapuram, India.
Poulose P; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology (SCTIMST), Thiruvananthapuram, India.
Sundaram S; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology (SCTIMST), Thiruvananthapuram, India.
Radhakrishnan A; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology (SCTIMST), Thiruvananthapuram, India.
Nampoothiri S; Amrita Institute of Medical Sciences, Kochi, India.
Menon RN; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences & Technology (SCTIMST), Thiruvananthapuram, India.
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Źródło :
Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 270-271. Date of Electronic Publication: 2021 Dec 09.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Whole Exome Sequencing*
Myoclonic Epilepsies, Progressive/*diagnosis
Myoclonic Epilepsies, Progressive/*genetics
Genetic Variation ; Humans ; Phenotype
Raport
Tytuł :
Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.
Autorzy :
Quiggle A; Department of Orthopaedic Surgery, Washington University in St. Louis, St. Louis, MO, USA.
Charng WL; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.
Antunes L; Department of Orthopaedic Surgery, Washington University in St. Louis, St. Louis, MO, USA.
Nikolov M; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.
Bledsoe X; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.
Hecht JT; Department of Pediatrics, McGovern Medical School and School of Dentistry, the University of Texas Health Science Center at Houston, Houston, TX, USA.
Dobbs MB; Paley Institute, West Palm Beach, FL, USA.
Gurnett CA; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.
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Źródło :
Clinical orthopaedics and related research [Clin Orthop Relat Res] 2022 Feb 01; Vol. 480 (2), pp. 421-430.
Typ publikacji :
Journal Article
MeSH Terms :
Whole Exome Sequencing*
Clubfoot/*genetics
Filamins/*genetics
Adolescent ; Adult ; Aged ; Child ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Mutation ; Phenotype ; Young Adult
Czasopismo naukowe
Tytuł :
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Autorzy :
Tran Mau-Them F; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Duffourd Y; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.; FHU-TRANSLAD, Dijon, France.
Vitobello A; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Bruel AL; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Denommé-Pichon AS; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Nambot S; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
Delanne J; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
Moutton S; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
Sorlin A; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
Couturier V; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Bourgeois V; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Chevarin M; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Poe C; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Mosca-Boidron AL; Laboratoire de Génétique Chromosomique et Moléculaire, CHU de Dijon, France.
Callier P; Laboratoire de Génétique Chromosomique et Moléculaire, CHU de Dijon, France.
Safraou H; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Faivre L; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndrome Malformatifs » de l'Est, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
Philippe C; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.
Thauvin-Robinet C; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.; FHU-TRANSLAD, Dijon, France.; Centre de Référence Maladies Rares «Déficiences Intellectuelles de Causes Rares», Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.
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Corporate Authors :
Orphanomix Physician’s Group; FHU-TRANSLAD, Dijon, France.
Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1836. Date of Electronic Publication: 2021 Oct 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Genetic Testing*
Translational Research, Biomedical*/methods
Translational Research, Biomedical*/standards
Whole Exome Sequencing*/methods
Whole Exome Sequencing*/standards
Rare Diseases/*diagnosis
Rare Diseases/*genetics
Genetic Markers ; Genome-Wide Association Study ; Humans ; Reproducibility of Results ; Research Design ; Sensitivity and Specificity ; Sequence Analysis, DNA ; Workflow
Czasopismo naukowe
Tytuł :
Prenatal exome sequencing: A useful tool for the fetal neurologist.
Autorzy :
de Koning MA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Toirkens MJP; Department of Radiology, Leiden University Medical Centre, Leiden, The Netherlands.
Adama-Scheltema PN; Department of Obstetrics, Leiden University Medical Centre, Leiden, The Netherlands.
Verweij EJ; Department of Obstetrics, Leiden University Medical Centre, Leiden, The Netherlands.
Veenhof MB; Department of Obstetrics, Leiden University Medical Centre, Leiden, The Netherlands.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
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Źródło :
Clinical genetics [Clin Genet] 2022 Jan; Vol. 101 (1), pp. 65-77. Date of Electronic Publication: 2021 Oct 19.
Typ publikacji :
Journal Article
MeSH Terms :
Whole Exome Sequencing*/methods
Fetus/*abnormalities
Nervous System Malformations/*diagnosis
Nervous System Malformations/*genetics
Prenatal Diagnosis/*methods
Clinical Decision-Making ; Consanguinity ; Disease Management ; Female ; Fetus/diagnostic imaging ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Nervous System Malformations/therapy ; Neurologists ; Pregnancy ; Pregnancy Outcome ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Autorzy :
Bruno LP; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
Doddato G; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
Valentino F; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
Baldassarri M; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
Tita R; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Fallerini C; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
Bruttini M; Medical Genetics, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Lo Rizzo C; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Mari F; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Fava F; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Fabbiani A; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Lamacchia V; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Carrer A; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Caputo V; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Granata S; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Benetti E; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
Zguro K; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
Furini S; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
Renieri A; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Ariani F; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 14; Vol. 22 (24). Date of Electronic Publication: 2021 Dec 14.
Typ publikacji :
Clinical Trial; Journal Article
MeSH Terms :
Genetic Loci*
Genetic Predisposition to Disease*
Whole Exome Sequencing*
Autistic Disorder/*genetics
Intellectual Disability/*genetics
Adolescent ; Autistic Disorder/pathology ; Child ; Female ; Humans ; Intellectual Disability/pathology ; Male
Czasopismo naukowe
Tytuł :
Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.
Autorzy :
Ripen AM; Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Selangor, Malaysia.
Chiow MY; Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.
Rama Rao PR; Pediatrics Department, Keningau Hospital, Ministry of Health Malaysia, Sabah, Malaysia.
Mohamad SB; Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.; Centre of Research in Systems Biology, Structural Bioinformatics and Human Digital Imaging (CRYSTAL), University of Malaya, Kuala Lumpur, Malaysia.
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Źródło :
Frontiers in immunology [Front Immunol] 2021 Nov 04; Vol. 12, pp. 778133. Date of Electronic Publication: 2021 Nov 04 (Print Publication: 2021).
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms :
Whole Exome Sequencing*
Granulomatous Disease, Chronic/*genetics
NADPH Oxidases/*genetics
Williams Syndrome/*genetics
Child ; Chromosome Deletion ; DNA Copy Number Variations ; Female ; Gene Dosage ; Genetic Predisposition to Disease ; Granulomatous Disease, Chronic/diagnosis ; Granulomatous Disease, Chronic/immunology ; Granulomatous Disease, Chronic/therapy ; Humans ; Mutation ; Phenotype ; Predictive Value of Tests ; Williams Syndrome/diagnosis ; Williams Syndrome/immunology ; Williams Syndrome/therapy
Raport
Tytuł :
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
Autorzy :
Liu J; Pediatric Intensive Care Unit, Hunan Childrens Hospital, University of South China, Changsha, Hunan, China.
Zheng Y; Pediatrics Research Institute of Hunan Province, Hunan Children's Hospital, Changsha, Hunan, China.; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Huang J; Pediatric Intensive Care Unit, Hunan Childrens Hospital, University of South China, Changsha, Hunan, China.
Zhu D; Pediatric Intensive Care Unit, Hunan Childrens Hospital, University of South China, Changsha, Hunan, China.
Zang P; Pediatric Intensive Care Unit, Hunan Childrens Hospital, University of South China, Changsha, Hunan, China.
Luo Z; Pediatrics Research Institute of Hunan Province, Hunan Children's Hospital, Changsha, Hunan, China.
Yang Y; Pediatrics Research Institute of Hunan Province, Hunan Children's Hospital, Changsha, Hunan, China.
Peng Y; Pediatrics Research Institute of Hunan Province, Hunan Children's Hospital, Changsha, Hunan, China.
Xiao Z; Pediatric Intensive Care Unit, Hunan Childrens Hospital, University of South China, Changsha, Hunan, China.
Zhu Y; Emergency Medicine Institute of Hunan Province, Changsha, Hunan, China.
Lu X; Pediatric Intensive Care Unit, Hunan Childrens Hospital, University of South China, Changsha, Hunan, China.
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Źródło :
Human mutation [Hum Mutat] 2021 Nov; Vol. 42 (11), pp. 1443-1460. Date of Electronic Publication: 2021 Aug 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genotype*
Intensive Care Units, Pediatric*
Phenotype*
Whole Exome Sequencing*
Rare Diseases/*genetics
Adolescent ; Child ; Child, Preschool ; Female ; Heterozygote ; Humans ; Infant ; Male
Czasopismo naukowe
Tytuł :
Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family
Autorzy :
Mehrjooy S; Cellular and Molecular Research Center Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Nikbakht R; Department of Gynecologym, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Mohammadi Asl J; Department of Medical Genetics Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Ghadiri A; Department of Immunology, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Ghandil P; Diabetes Research Center, Health Research Institute Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
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Źródło :
Iranian biomedical journal [Iran Biomed J] 2021 Nov 01; Vol. 25 (6), pp. 441-6. Date of Electronic Publication: 2021 Nov 01.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Whole Exome Sequencing*
Lectins/*genetics
Primary Ovarian Insufficiency/*genetics
Adult ; Female ; Humans ; Iran ; Mutation ; Young Adult
Czasopismo naukowe
Tytuł :
A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.
Autorzy :
Ripen AM; Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health, Selangor, Malaysia.
Chear CT; Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health, Selangor, Malaysia.; Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.
Baharin MF; Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health, Selangor, Malaysia.
Nallusamy R; Pediatric Department, Penang General Hospital, Ministry of Health, Penang, Malaysia.
Chan KC; Pediatric Department, Penang General Hospital, Ministry of Health, Penang, Malaysia.
Kassim A; Pediatric Department, Kuala Lumpur Hospital, Ministry of Health, Kuala Lumpur, Malaysia.
Choo CM; Pediatric Department, Sultan Abdul Halim Hospital, Ministry of Health, Kedah, Malaysia.
Wong KJ; Pediatric Department, Likas Hospital, Ministry of Health, Sabah, Malaysia.
Fong SM; Pediatric Department, Likas Hospital, Ministry of Health, Sabah, Malaysia.
Tan KK; Pediatric Department, Tuanku Ja'afar Hospital, Ministry of Health, Seremban, Malaysia.
Nachiappan JP; Pediatric Department, Raja Permaisuri Bainun Hospital, Ministry of Health, Perak, Malaysia.
Teo KR; Pediatric Department, Sultan Ismail Johor Bahru Hospital, Ministry of Health, Johor, Malaysia.
Chiow MY; Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.
Hishamshah M; Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health, Selangor, Malaysia.
Ghani H; Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.
Muralitharan RR; Primary Immunodeficiency Unit, Allergy and Immunology Research Centre, Institute for Medical Research, Ministry of Health, Selangor, Malaysia.; Hypertension Research Laboratory, School of Biological Sciences, Faculty of Science, Monash University, Melbourne, Victoria, Australia.
Mohamad SB; Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.; Centre of Research in Systems Biology, Structural Bioinformatics and Human Digital Imaging (CRYSTAL), University of Malaya, Kuala Lumpur, Malaysia.
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Źródło :
Clinical and experimental immunology [Clin Exp Immunol] 2021 Nov; Vol. 206 (2), pp. 119-128. Date of Electronic Publication: 2021 Jul 13.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Whole Exome Sequencing*
Genetic Diseases, Inborn/*genetics
Immunity, Cellular/*genetics
Immunity, Innate/*genetics
Immunologic Deficiency Syndromes/*genetics
Child ; Child, Preschool ; Female ; Humans ; Infant ; Malaysia ; Male ; Pilot Projects
Czasopismo naukowe
Tytuł :
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
Autorzy :
Wang L; Baylor Genetics Laboratory, Houston, Texas, USA.
Liu P; Baylor Genetics Laboratory, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Bi W; Baylor Genetics Laboratory, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Sim T; GeneDx, Gaithersburg, Maryland, USA.
Wang X; AiLife Diagnostics, Houston, Texas, USA.
Walkiewicz M; National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.
Leduc MS; Genomics PLC, Cambridge, Massachusetts, USA.
Meng L; Baylor Genetics Laboratory, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Xia F; Baylor Genetics Laboratory, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Eng CM; Baylor Genetics Laboratory, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Yang Y; AiLife Diagnostics, Houston, Texas, USA.
Yuan B; Baylor Genetics Laboratory, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Dai H; Baylor Genetics Laboratory, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1792. Date of Electronic Publication: 2021 Sep 29.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Disorders/*genetics
Uniparental Disomy/*genetics
Whole Exome Sequencing/*methods
Chromosome Disorders/diagnosis ; Humans ; Pedigree ; Uniparental Disomy/diagnosis ; Whole Exome Sequencing/statistics & numerical data
Czasopismo naukowe
Tytuł :
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Autorzy :
Tosur M; Department of Pediatrics, The Section of Diabetes and Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.
Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.
Chan KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.
Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Meng Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Refaey A; Department of Biology and Biochemistry, University of Houston, Houston, Texas, USA.
Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Murdock DR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Balasubramanyam A; Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, Texas, USA.
Redondo MJ; Department of Pediatrics, The Section of Diabetes and Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.
Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
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Źródło :
Pediatric diabetes [Pediatr Diabetes] 2021 Nov; Vol. 22 (7), pp. 960-968. Date of Electronic Publication: 2021 Aug 19.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Whole Exome Sequencing*
Diabetes Mellitus, Type 2/*genetics
Adolescent ; Autoantibodies/blood ; Child ; Diabetes Mellitus, Type 1 ; Diagnosis, Differential ; Female ; Frameshift Mutation/genetics ; Genetic Variation ; Humans ; Islets of Langerhans/immunology ; Male ; Mutation, Missense/genetics ; Pedigree
Czasopismo naukowe
Tytuł :
System analysis of the sequencing quality of human whole exome samples on BGI NGS platform.
Autorzy :
Belova V; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997. .
Pavlova A; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997.
Afasizhev R; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997.
Moskalenko V; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997.
Korzhanova M; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997.
Krivoy A; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997.
Cheranev V; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997.
Nikashin B; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997.
Bulusheva I; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997.
Rebrikov D; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997.
Korostin D; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Ostovityanova str. 1, Moscow, Russian Federation, 117997.
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Źródło :
Scientific reports [Sci Rep] 2022 Jan 12; Vol. 12 (1), pp. 609. Date of Electronic Publication: 2022 Jan 12.
Typ publikacji :
Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Probes*
Whole Exome Sequencing/*standards
Base Composition ; Humans ; INDEL Mutation ; Polymorphism, Single Nucleotide ; Whole Exome Sequencing/economics
Czasopismo naukowe
Tytuł :
Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers.
Autorzy :
Reddy R; Miller School of Medicine, University of Miami 1120 NW 14th Street, Miami, FL.
Efimenko I; Miller School of Medicine, University of Miami 1120 NW 14th Street, Miami, FL.
Chertman W; Miller School of Medicine, University of Miami 1120 NW 14th Street, Miami, FL.
Kohn T; The James Buchanan Brady Urological Institute and Department of Urology, Johns Hopkins University School of Medicine, Baltimore, MD.
Diaz P; Department of Urology, University of Miami Miller School of Medicine, Miami, FL.
Seetharam D; Department of Urology, University of Miami Miller School of Medicine, Miami, FL.
Khodamoradi K; Department of Urology, University of Miami Miller School of Medicine, Miami, FL.
Kresch E; Department of Urology, University of Miami Miller School of Medicine, Miami, FL.
Ramasamy R; Department of Urology, University of Miami Miller School of Medicine, Miami, FL. Electronic address: .
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Źródło :
Urology [Urology] 2022 Jan; Vol. 159, pp. 83-86. Date of Electronic Publication: 2021 Oct 20.
Typ publikacji :
Case Reports
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 7*
Whole Exome Sequencing*
COVID-19/*complications
Orchitis/*virology
Adult ; Angiotensin-Converting Enzyme 2/blood ; Frameshift Mutation ; Humans ; Male ; Siblings
Raport
Tytuł :
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Autorzy :
Klau J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.
Beblo S; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.
Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jan; Vol. 30 (1), pp. 117-125. Date of Electronic Publication: 2021 Oct 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities/*genetics
Genetic Testing/*methods
Rare Diseases/*genetics
Spasms, Infantile/*genetics
Whole Exome Sequencing/*methods
Adolescent ; Child ; Child, Preschool ; Costs and Cost Analysis ; Developmental Disabilities/pathology ; Genetic Testing/economics ; Humans ; Infant ; Rare Diseases/diagnosis ; Spasms, Infantile/pathology ; Whole Exome Sequencing/economics ; Young Adult
Czasopismo naukowe

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