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Wyszukujesz frazę ""Boduroğlu, K"" wg kryterium: Autor


Tytuł :
Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability.
Autorzy :
Oğuz S; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Arslan UE; Department of Health Research, Public Health Institute, Ankara, Turkey.
Kiper PÖŞ; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikaşifoğlu M; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2021 Oct 18. Date of Electronic Publication: 2021 Oct 18.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.
Autorzy :
Akalın A; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Şimşek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine E; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alanay Y; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Department of Pediatrics, Acıbadem University Faculty of Medicine, Istanbul, Turkey.
Özçelik U; Department of Pediatric Chest Diseases, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Oct; Vol. 185 (10), pp. 3104-3110. Date of Electronic Publication: 2021 Jun 04.
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
Raport
Tytuł :
Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?
Autorzy :
Hizal M; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. .
Satırer O; Department of Pediatrics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey.
Polat SE; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
Tural DA; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
Ozsezen B; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
Sunman B; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
Karahan S; Department of Biostatistic, Hacettepe University, Ankara, Turkey.
Emiralioglu N; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey.
Boduroglu K; Department of Pediatric Genetics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey.
Yalcin E; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
Dogru D; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
Kiper N; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
Ozcelik U; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
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Źródło :
European journal of pediatrics [Eur J Pediatr] 2021 Sep 25. Date of Electronic Publication: 2021 Sep 25.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity.
Autorzy :
Akgün-Doğan Ö; Division of Pediatric Genetics, Department of Pediatrics, 37515Hacettepe University Faculty of Medicine, Ankara, Turkey.
Simsek-Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, 37515Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taşkıran E; Department of Medical Genetics, 64005Hacettepe University Faculty of Medicine, Ankara, Turkey.
Schossig A; Institute of Human Genetics, 27280Medical University Innsbruck, Innsbruck, Austria.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, 37515Hacettepe University Faculty of Medicine, Ankara, Turkey.
Zschocke J; Institute of Human Genetics, 27280Medical University Innsbruck, Innsbruck, Austria.
Boduroglu K; Division of Pediatric Genetics, Department of Pediatrics, 37515Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Journal of child neurology [J Child Neurol] 2021 Sep; Vol. 36 (10), pp. 816-822. Date of Electronic Publication: 2021 Apr 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
Autorzy :
Güleray N; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Koşukcu C; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey.
Oğuz S; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ürel Demir G; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kiper PÖŞ; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alanay Y; Department of Pediatric Genetics, Acıbadem University Faculty of Medicine, Istanbul, Turkey.
Boduroğlu K; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikaşifoğlu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2021 Aug 19, pp. 10556656211038115. Date of Electronic Publication: 2021 Aug 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism.
Autorzy :
Ozsezen B; Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey. Electronic address: .
Emiralioglu N; Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Özön A; Department of Pediatric Endocrinology, Ankara, Turkey.
Akın O; Department of Pediatric Endocrinology University of Health Sciences Turkey, Gülhane Training and Research Hospital, Ankara, Turkey.
Tural DA; Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Sunman B; Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Hejiyeva A; Department of Pediatrics, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Hızal M; Department of Pediatric Pulmonology, Ankara Training and Research Hospital, University of Health Science, Ankara, Turkey.
Alikasifoğlu A; Department of Pediatric Endocrinology, Ankara, Turkey.
Şimşek Kiper PÖ; Department of Pediatric Genetics, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Boduroglu K; Department of Pediatric Genetics, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Yalcin E; Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Dogru D; Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Kiper N; Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Ozcelik U; Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
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Źródło :
Respiratory medicine [Respir Med] 2021 Aug 08; Vol. 187, pp. 106567. Date of Electronic Publication: 2021 Aug 08.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.
Autorzy :
Soyer T; Department of Pediatric Surgery, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Karaosmanoglu B; Department of Medical Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Taskiran EZ; Department of Medical Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Kiper PÖŞ; Department of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Karnak İ; Department of Pediatric Surgery, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3427-3432. Date of Electronic Publication: 2021 Aug 17.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Autorzy :
Kındış E; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Simsek-Kiper PÖ; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Koşukcu C; Department of Bioinformatics, Institute of Health Sciences, Hacettepe University, Ankara, Turkey.
Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Göçmen R; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine E; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Haliloğlu G; Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikaşifoğlu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1888-1896. Date of Electronic Publication: 2021 Mar 22.
Typ publikacji :
Case Reports
MeSH Terms :
Brain/*abnormalities
Leukoencephalopathies/*genetics
Neurodevelopmental Disorders/*genetics
Osteosclerosis/*genetics
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/*genetics
Adolescent ; Brain/pathology ; Child ; Female ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Introns/genetics ; Leukoencephalopathies/pathology ; Male ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Mutation/genetics ; Nerve Degeneration/genetics ; Nerve Degeneration/pathology ; Nervous System Malformations/genetics ; Nervous System Malformations/pathology ; Neurodevelopmental Disorders/pathology ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/pathology ; Osteosclerosis/pathology ; Phenotype ; Siblings
SCR Disease Name :
Dysosteosclerosis; Pyle disease
Raport
Tytuł :
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Autorzy :
Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Karaosmanoğlu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Koşukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ürel-Demir G; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Akgün-Doğan Ö; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Şimşek-Kiper PÖ; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikaşifoğlu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2021 Jun; Vol. 65 (6), pp. 577-588. Date of Electronic Publication: 2021 Mar 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Autorzy :
Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. .
Urel-Demir G; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Arslan UE; Institute of Public Health, Hacettepe University, Ankara, Turkey.
Nur B; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
Mihci E; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
Haliloglu M; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alanay Y; Department of Pediatric Genetics, Acibadem Mehmet Aydınlar University Faculty of Medicine, Istanbul, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroglu K; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Journal of human genetics [J Hum Genet] 2021 Jun; Vol. 66 (6), pp. 585-596. Date of Electronic Publication: 2020 Dec 07.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Dwarfism/*genetics
Osteochondrodysplasias/*epidemiology
Receptors, Atrial Natriuretic Factor/*genetics
Child ; Child, Preschool ; Consanguinity ; Dwarfism/diagnosis ; Dwarfism/epidemiology ; Dwarfism/physiopathology ; Female ; Heterozygote ; Homozygote ; Humans ; Infant ; Limb Deformities, Congenital/diagnosis ; Limb Deformities, Congenital/epidemiology ; Limb Deformities, Congenital/genetics ; Limb Deformities, Congenital/physiopathology ; Male ; Mutation/genetics ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/physiopathology ; Pedigree ; Tertiary Healthcare ; Turkey/epidemiology ; Whole Exome Sequencing
SCR Disease Name :
Acromesomelic dysplasia
Czasopismo naukowe
Tytuł :
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.
Autorzy :
Ürel-Demir G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: .
Şimşek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Öncel İ; Department of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Haliloğlu G; Department of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 May; Vol. 32, pp. 46-55. Date of Electronic Publication: 2021 Mar 16.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Bone Diseases, Developmental/*genetics
Bone Diseases, Developmental/*pathology
Neuromuscular Diseases/*genetics
Neuromuscular Diseases/*pathology
TRPV Cation Channels/*genetics
Adolescent ; Child ; Child, Preschool ; Humans ; Infant ; Male ; Phenotype ; Turkey ; Young Adult
Czasopismo naukowe
Tytuł :
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
Autorzy :
Ürel-Demir G; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Aydın B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Karaosmanoğlu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Akgün-Doğan Ö; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Şimşek-Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroğlu K; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Molecular syndromology [Mol Syndromol] 2021 Apr; Vol. 12 (2), pp. 106-111. Date of Electronic Publication: 2021 Feb 05.
Typ publikacji :
Case Reports
Raport
Tytuł :
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.
Autorzy :
Kaya Akca U; Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Simsek Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Urel Demir G; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Sag E; Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Atalay E; Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroglu K; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Bilginer Y; Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ozen S; Department of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Apr; Vol. 64 (4), pp. 104185. Date of Electronic Publication: 2021 Mar 02.
Typ publikacji :
Clinical Trial; Journal Article
MeSH Terms :
Genetic Testing/*standards
Limb Deformities, Congenital/*genetics
Rheumatic Diseases/*genetics
Adolescent ; Child ; Diagnosis, Differential ; Female ; Genetic Testing/methods ; Humans ; Limb Deformities, Congenital/diagnosis ; Limb Deformities, Congenital/diagnostic imaging ; Male ; Radiography/standards ; Rheumatic Diseases/diagnosis ; Rheumatic Diseases/diagnostic imaging
Czasopismo naukowe
Tytuł :
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.
Autorzy :
Taylan Sekeroglu H; Department of Ophthalmology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Karaosmanoglu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Simsek Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroglu K; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Coskun T; Division of Metabolism, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło :
Molecular syndromology [Mol Syndromol] 2020 Dec; Vol. 11 (5-6), pp. 302-308. Date of Electronic Publication: 2020 Sep 09.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.
Autorzy :
Vuralli D; Division of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
Kosukcu C; Department of Medical Genetics, Hacettepe University Medical School, Ankara, Turkey.
Taskiran E; Department of Medical Genetics, Hacettepe University Medical School, Ankara, Turkey.
Simsek-Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
Boduroglu K; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
Alikasifoglu A; Division of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
Alikasifoglu M; Department of Medical Genetics, Hacettepe University Medical School, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.
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Źródło :
Molecular syndromology [Mol Syndromol] 2020 Nov; Vol. 11 (4), pp. 207-216. Date of Electronic Publication: 2020 Sep 16.
Typ publikacji :
Journal Article
Czasopismo naukowe

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