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Wyszukujesz frazę ""European journal of human genetics: EJHG [Eur J Hum Genet] NLMUID: 9302235"" wg kryterium: JN


Tytuł :
Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk.
Autorzy :
Mur P; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Magraner-Pardo L; Prostate Cancer Clinical Research Unit, Spanish National Cancer Research Center (CNIO), Madrid, Spain.
García-Mulero S; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Unit of Biomarkers and Susceptibility, Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain.; Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain.; Department of Clinical Sciences, Faculty of Medicine, University of Barcelona, Barcelona, Spain.
Díez-Villanueva A; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Unit of Biomarkers and Susceptibility, Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain.; Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain.
Del Valle J; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Ezquerro E; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
Moreno V; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Unit of Biomarkers and Susceptibility, Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain.; Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain.; Department of Clinical Sciences, Faculty of Medicine, University of Barcelona, Barcelona, Spain.
Sanz-Pamplona R; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.; Unit of Biomarkers and Susceptibility, Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain.; Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain.
Pons T; Department of Immunology and Oncology, National Center for Biotechnology (CNB-CSIC), Spanish National Research Council, Madrid, Spain.
Valle L; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. .; Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. .; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 20. Date of Electronic Publication: 2021 Jul 20.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.
Autorzy :
Hay E; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
Hoskins B; North Thames Regional Genetic laboratory, Great Ormond Street Hospital, London, UK.
Samuels M; Department of Respiratory Medicine, Great Ormond Street Hospital, London, UK.
Munot P; Department of Neurosciences, Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK.
Rahman S; UCL Great Ormond Street Institute of Child Health, UCL, 30 Guilford Street, London, WC1N 1EH, UK. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 20. Date of Electronic Publication: 2021 Jul 20.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning.
Autorzy :
Kolosov N; ITMO University, St. Petersburg, Russia.; Almazov National Medical Research Center, St. Petersburg, Russia.; Broad Institute, Cambridge, MA, USA.
Daly MJ; Broad Institute, Cambridge, MA, USA. .; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. .; Institute for Molecular Medicine Finland (FIMM), Helsinki, Finland. .
Artomov M; ITMO University, St. Petersburg, Russia. .; Almazov National Medical Research Center, St. Petersburg, Russia. .; Broad Institute, Cambridge, MA, USA. .; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. .; Institute for Molecular Medicine Finland (FIMM), Helsinki, Finland. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 19. Date of Electronic Publication: 2021 Jul 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Autorzy :
Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Udyawar D; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Sharma S; Department of Pediatrics (Neurology division), Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, India.
Suresh N; Department of Pediatrics (Neurology division), Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, India.
Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, India.
do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Somashekar PH; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Kausthubham N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Ramesh Bhat Y; Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Shrikiran A; Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 19. Date of Electronic Publication: 2021 Jul 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?
Autorzy :
Peck L; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; London Health Sciences Centre, London, Ontario, Canada.
Borle K; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
Folkersen L; Institute of Biological Psychiatry, Mental Health Centre Sankt Hans, Copenhagen, Denmark.
Austin J; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada. .; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 19. Date of Electronic Publication: 2021 Jul 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants.
Autorzy :
Pham A; Sorbonne Université, INSERM UMR_S 938, Centre de Recherche Saint Antoine, AP-HP, Hôpital Armand Trousseau, service de néonatologie, Paris, France.
Sobrier ML; Sorbonne Université, INSERM UMR_S 938, Centre de Recherche Saint Antoine, Paris, France.
Giabicani E; Sorbonne Université, INSERM UMR_S 938, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.
Le Jules Fernandes M; APHP, Hôpital Armand Trousseau, Laboratoire de Biologie Moléculaire Endocrinienne, Paris, France.
Mitanchez D; Sorbonne Université, INSERM UMR_S 938, Centre de Recherche Saint Antoine, Paris, France.
Brioude F; Sorbonne Université, INSERM UMR_S 938, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.
Netchine I; Sorbonne Université, INSERM UMR_S 938, Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 19. Date of Electronic Publication: 2021 Jul 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases.
Autorzy :
Hurvitz N; Faculty of Medicine, Department of Medicine, Hebrew University, Hadassah Medical Center, Jerusalem, Israel.
Azmanov H; Faculty of Medicine, Department of Medicine, Hebrew University, Hadassah Medical Center, Jerusalem, Israel.
Kesler A; Faculty of Medicine, Department of Medicine, Hebrew University, Hadassah Medical Center, Jerusalem, Israel.
Ilan Y; Faculty of Medicine, Department of Medicine, Hebrew University, Hadassah Medical Center, Jerusalem, Israel. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 19. Date of Electronic Publication: 2021 Jul 19.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone).
Autorzy :
Matic M; Department of Clinical Chemistry, Erasmus University Medical Center, Rotterdam, The Netherlands.
Nijenhuis M; Royal Dutch Pharmacists Association (KNMP), The Hague, The Netherlands. .
Soree B; Royal Dutch Pharmacists Association (KNMP), The Hague, The Netherlands.
de Boer-Veger NJ; Pharmacy Boterdiep, Groningen, The Netherlands.
Buunk AM; Pharmacy De Katwijkse Apotheek, Katwijk, The Netherlands.
Houwink EJF; Department of Public Health and Primary Care (PHEG), Leiden University Medical Centre, Leiden, The Netherlands.; National eHealth Living Lab (NELL), Leiden, The Netherlands.
Mulder H; Department of Clinical Pharmacy, Wilhelmina Hospital, Assen, The Netherlands.
Rongen GAPJM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pharmacology and Toxicology, Radboud University Medical Center, Nijmegen, The Netherlands.
Weide JV; Department of Clinical Chemistry, St. Jansdal Hospital, Harderwijk, The Netherlands.
Wilffert B; Department of Clinical Pharmacy & Pharmacology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Department of PharmacoTherapy, PharmacoEpidemiology & PharmacoEconomics, Groningen Research Institute of Pharmacy, University of Groningen, Groningen, The Netherlands.
Swen JJ; Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center, Leiden, The Netherlands.
Guchelaar HJ; Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center, Leiden, The Netherlands.
Deneer VHM; Department of Clinical Pharmacy, University Medical Center Utrecht, Utrecht, The Netherlands.
van Schaik RHN; Department of Clinical Chemistry, Erasmus University Medical Center, Rotterdam, The Netherlands.
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 15. Date of Electronic Publication: 2021 Jul 15.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.
Autorzy :
Matsumoto K; Department of Respiratory Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Lim D; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston, Birmingham, UK.
Pharoah PD; CRUK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.
Maher ER; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.
Marciniak SJ; Department of Respiratory Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK. .; Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 15. Date of Electronic Publication: 2021 Jul 15.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Autorzy :
de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. .
Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Horvath R; Department of Clinical Neurosciences, University of Cambridge, John Van Geest Cambridge Centre for Brain Repair, Cambridge, UK.
Rodenburg RJ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
Coenen MJH; Department of Human Genetics, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Janssen M; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Henssen D; Department of Medical Imaging, Radboud University Medical Center, Nijmegen, The Netherlands.
Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Steyaert W; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Paramonov I; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Trimouille A; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; MRGM, Maladies Rares: Génétique et Métabolisme, lNSERM U1211, Université de Bordeaux, Bordeaux, France.
Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Verloes A; Département de Génétique, APHP Robert DEBRE University Hospital and INSERM U1141, Paris, France.
Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
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Corporate Authors :
Solve-RD SNV-indel working group
Solve-RD-DITF-ITHACA
Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 15. Date of Electronic Publication: 2021 Jul 15.
Typ publikacji :
Published Erratum
Tytuł :
Allele frequency differentiation at height-associated SNPs among continental human populations.
Autorzy :
Chen M; Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. .
Chiang CWK; Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. .; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 15. Date of Electronic Publication: 2021 Jul 15.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
Autorzy :
Arteche-López A; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain. .
Álvarez-Mora MI; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Fundació Clínic per la Recerca Biomèdica, Barcelona, Spain.
Sánchez Calvin MT; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Lezana Rosales JM; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Palma Milla C; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Gómez Rodríguez MJ; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Gomez Manjón I; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Blázquez A; Mitochondrial and Neurometabolic Diseases Lab. Biochemistry Department, '12 de Octubre' Research Institute (imas12), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Juarez Rufián A; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Ramos Gómez P; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Sierra Tomillo O; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Hidalgo Mayoral I; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Pérez de la Fuente R; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Posada Rodríguez IJ; Neurology Department, University Hospital 12 de Octubre, Madrid, Spain.
González Granado LI; Pediatrics Department, Immunodeficiency Unit, University Hospital 12 de Octubre, Madrid, Spain.; Complutense University School of Medicine. Madrid, Spain and '12 de Octubre' Research Institute (imas12), Madrid, Spain.
Martin MA; Mitochondrial and Neurometabolic Diseases Lab. Biochemistry Department, '12 de Octubre' Research Institute (imas12), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Quesada-Espinosa JF; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
Moreno-García M; Genetics Department, University Hospital 12 de Octubre, Madrid, Spain.
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul 15. Date of Electronic Publication: 2021 Jul 15.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Clinical genetics-it's polygenic.
Autorzy :
McNeill A; Department of Neuroscience, The University of Sheffield, Sheffield, UK. .; Sheffield Clinical Genetics Department, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul; Vol. 29 (7), pp. 1037.
Typ publikacji :
Editorial
Opinia redakcyjna
Tytuł :
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.
Autorzy :
Buelow M; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt Universität zu Berlin, Berlin, Germany.
Süßmuth D; HELIOS Kliniken - Helios Klinikum Hohenstücken, Berlin, Germany.
Smith LD; Department of Pediatrics, Division of Pediatric Genetics and Metabolism, The University of North Carolina SOM, North Carolina, NC, USA.
Aryani O; Department of Neuroscience, Iranian University of Medical Sciences, Tehran, Iran.
Castiglioni C; Pediatric Neurology, Clínica Las Condes, Santiago, Chile.
Stenzel W; Department of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt Universität zu Berlin, Berlin, Germany.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
Schuelke M; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt Universität zu Berlin, Berlin, Germany.; NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt Universität zu Berlin, Berlin, Germany.
Knierim E; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt Universität zu Berlin, Berlin, Germany. .; NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt Universität zu Berlin, Berlin, Germany. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul; Vol. 29 (7), pp. 1121-1128. Date of Electronic Publication: 2021 Mar 26.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
The Ami and Yami aborigines of Taiwan and their genetic relationship to East Asian and Pacific populations.
Autorzy :
Tätte K; Estonian Biocentre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Metspalu E; Estonian Biocentre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Post H; Estonian Biocentre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Palencia-Madrid L; BIOMICs Research Group, Lascaray Research Center, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Spain.
Luis JR; Area de Antropología, Facultad de Biología, Universidad de Santiago de Compostela, Santiago de Compostela, Spain.
Reidla M; Estonian Biocentre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Rea A; Department of Evolutionary Biology, Institute of Cell and Molecular Biology, University of Tartu, Tartu, Estonia.
Tamm E; Estonian Biocentre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Moding EJ; Department of Radiation Oncology, Stanford University Medical Center, Stanford, CA, USA.
de Pancorbo MM; BIOMICs Research Group, Lascaray Research Center, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Spain.
Garcia-Bertrand R; Department of Molecular Biology, Colorado College, Colorado Springs, CO, USA.
Metspalu M; Estonian Biocentre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Herrera RJ; Department of Molecular Biology, Colorado College, Colorado Springs, CO, USA. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul; Vol. 29 (7), pp. 1092-1102. Date of Electronic Publication: 2021 Mar 23.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm.
Autorzy :
Li Y; Beijing Anzhen Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China.; The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China.
Kong Y; Beijing Anzhen Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China.; The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China.
Duan W; Department of Cardiovascular Surgery, Xijing Hospital, Fourth Military Medical University, Xi'an, China.
Yu S; Department of Cardiovascular Surgery, Xijing Hospital, Fourth Military Medical University, Xi'an, China.
Zhou X; Depatment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China.
Hu Y; Depatment of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China.
Ou JS; Division of Cardiac Surgery, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Yi D; Department of Cardiovascular Surgery, Xijing Hospital, Fourth Military Medical University, Xi'an, China.
Xie J; Beijing Anzhen Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China.
Zhu J; Beijing Anzhen Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China.
Sun L; Beijing Anzhen Hospital, Capital Medical University, Beijing, China.; Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China.
Li Y; Beijing Anzhen Hospital, Capital Medical University, Beijing, China. .; Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China. .; The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China. .
Du J; Beijing Anzhen Hospital, Capital Medical University, Beijing, China. .; Beijing Institute of Heart, Lung & Blood Vessel Disease, Beijing, China. .; The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing, China. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul; Vol. 29 (7), pp. 1129-1138. Date of Electronic Publication: 2021 Apr 06.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
Autorzy :
Whitworth J; University of Cambridge Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK. .
Casey RT; University of Cambridge Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.
Smith PS; University of Cambridge Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.
Giger O; Department of Pathology, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
Martin JE; University of Cambridge Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.
Clark G; University of Cambridge Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.
Cook J; Department of Clinical Genetics, Northern General Hospital, Sheffield, UK.
Fernando MS; Department of Pathology, Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Sheffield, UK.
Taniere P; Department of Pathology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Maher ER; University of Cambridge Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.
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Corporate Authors :
NIHR BioResource
Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul; Vol. 29 (7), pp. 1139-1145. Date of Electronic Publication: 2021 Apr 15.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Polygenic risk modeling with latent trait-related genetic components.
Autorzy :
Aguirre M; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Pediatrics, School of Medicine, Stanford University, Stanford, CA, USA.
Tanigawa Y; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA.
Venkataraman GR; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA.
Tibshirani R; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Statistics, Stanford University, Stanford, CA, USA.
Hastie T; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Statistics, Stanford University, Stanford, CA, USA.
Rivas MA; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul; Vol. 29 (7), pp. 1071-1081. Date of Electronic Publication: 2021 Feb 08.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
Autorzy :
Knapp KM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Jenkins DE; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Sullivan R; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
de Munnik S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Bongers EMHF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Murray J; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.; South East Scotland Clinical Genetics Service, NHS Lothian, Western General Hospital, Edinburgh, UK.
Pachter N; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.; Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia.
Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Bicknell LS; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jul; Vol. 29 (7), pp. 1110-1120. Date of Electronic Publication: 2021 Mar 02.
Typ publikacji :
Journal Article
Czasopismo naukowe

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