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Wyświetlanie 1-10 z 10
Tytuł :
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Autorzy :
Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Norwegian National Unit for Newborn Screening, Oslo University Hospital, Oslo, Norway; Department of Pediatrics, Oslo University Hospital, Oslo, Norway. Electronic address: .
Sorte HS; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Samarakoon P; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Gambin T; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
Chinn IK; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Coban Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Erichsen HC; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
Forbes LR; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Gu S; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Yuan B; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Jhangiani SN; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex.
Muzny DM; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex.
Rødningen OK; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Sheng Y; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Nicholas SK; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Noroski LM; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Seeborg FO; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Davis CM; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Canter DL; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Mace EM; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Vece TJ; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Allen CE; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Tex; Texas Children's Cancer and Hematology Center, Department of Pediatrics, Center for Cell and Gene Therapy, Texas Children's Hospital and Baylor College of Medicine, Houston, Tex.
Abhyankar HA; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Tex; Texas Children's Cancer and Hematology Center, Department of Pediatrics, Center for Cell and Gene Therapy, Texas Children's Hospital and Baylor College of Medicine, Houston, Tex.
Boone PM; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Beck CR; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Wiszniewski W; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Fevang B; Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Aukrust P; Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Tjønnfjord GE; Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Hematology, Oslo University Hospital, Oslo, Norway.
Gedde-Dahl T; Department of Hematology, Oslo University Hospital, Oslo, Norway.
Hjorth-Hansen H; Department of Hematology, St Olavs Hospital, Trondheim, Norway; Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
Dybedal I; Department of Hematology, Oslo University Hospital, Oslo, Norway.
Nordøy I; Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Jørgensen SF; Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Abrahamsen TG; Department of Pediatrics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Øverland T; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
Bechensteen AG; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
Skogen V; Department of Infectious Diseases, Medical Clinic, University Hospital of North-Norway, Tromsø, Norway.
Osnes LTN; Department of Immunology and Transfusion Medicine, Oslo University Hospital, Oslo, Norway.
Kulseth MA; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Prescott TE; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Heimdal KR; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Rider NL; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Chinen J; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Cao TN; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Smith EA; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Tex.
Caldirola MS; Immunology Service, Ricardo Gutierrez Children's Hospital, Ciudad Autonoma de Buenos Aires, Buenos Aires, Argentina.
Bezrodnik L; Immunology Service, Ricardo Gutierrez Children's Hospital, Ciudad Autonoma de Buenos Aires, Buenos Aires, Argentina.
Lugo Reyes SO; Immunodeficiencies Research Unit, National Institute of Pediatrics, Coyoacan, Mexico City, Mexico.
Espinosa Rosales FJ; Immunodeficiencies Research Unit, National Institute of Pediatrics, Coyoacan, Mexico City, Mexico.
Guerrero-Cursaru ND; Universidad San Francisco de Quito, Quito, Ecuador.
Pedroza LA; Universidad San Francisco de Quito, Quito, Ecuador.
Poli CM; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Hospital Roberto del Rio, Universidad de Chile, Santiago, Chile.
Franco JL; Grupo de Inmunodeficiencias Primarias, Departamento de Microbiología y Parasitología, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
Trujillo Vargas CM; Grupo de Inmunodeficiencias Primarias, Departamento de Microbiología y Parasitología, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
Aldave Becerra JC; Allergy and Clinical Immunology, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.
Wright N; Alberta Children's Hospital, Calgary, Alberta, Canada.
Issekutz TB; Department of Pediatrics, Dalhousie University, Izaak Walton Killam Health Centre, Halifax, Nova Scotia, Canada.
Issekutz AC; Department of Pediatrics, Dalhousie University, Izaak Walton Killam Health Centre, Halifax, Nova Scotia, Canada.
Abbott J; Department of Pediatrics, National Jewish Health, Denver, Colo.
Caldwell JW; Section of Pulmonary, Critical Care, Allergic and Immunological Diseases, Wake Forest Baptist Medical Center, Medical Center Boulevard, Winston-Salem, NC.
Bayer DK; Department of Pediatrics, Division of Pediatric Allergy/Immunology and Pulmonology, University of Iowa Carver College of Medicine, Iowa City, Iowa.
Chan AY; Department of Pediatrics, University of California, San Francisco, Calif.
Aiuti A; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), and Vita-Salute San Raffaele University, Milan, Italy.
Cancrini C; University Department of Pediatrics, DPUO, Bambino Gesù Children's Hospital, and Tor Vergata University, Rome, Italy.
Holmberg E; Department of Clinical Genetics, University Hospital of Umeå, Umeå, Sweden.
West C; Department of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden.
Burstedt M; Department of Clinical Genetics, University Hospital of Umeå, Umeå, Sweden.
Karaca E; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Yesil G; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Medical Genetics, Bezmi Alem Vakif University Faculty of Medicine, Istanbul, Turkey.
Artac H; Department of Pediatric Immunology and Allergy, Selcuk University Medical Faculty, Alaeddin Keykubat Kampusu, Konya, Turkey.
Bayram Y; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Atik MM; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Eldomery MK; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Ehlayel MS; Department of Pediatrics, Section of Pediatric Allergy and Immunology, Hamad Medical Corporation, Doha, Department of Paediatrics, Weill Cornell Medical College, Ar-Rayyan, Qatar.
Jolles S; Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, Wales.
Flatø B; Department of Rheumatology, Oslo University Hospital, Oslo, Norway.
Bertuch AA; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Tex.
Hanson IC; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Zhang VW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Wong LJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Hu J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex.
Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.
Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex; Human Genetics Center, University of Texas School of Public Health, Houston, Tex.
Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex.
Shearer WT; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.
Lyle R; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Orange JS; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex. Electronic address: .
Lupski JR; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address: .
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Źródło :
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2017 Jan; Vol. 139 (1), pp. 232-245. Date of Electronic Publication: 2016 Jul 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Immunologic Deficiency Syndromes/*genetics
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; DNA Copy Number Variations ; Female ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Middle Aged ; Young Adult
Czasopismo naukowe
Tytuł :
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Autorzy :
Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.
Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.
Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.
Gu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.
Jhangiani SN; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Muzny DM; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Doddapaneni H; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Hu J; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.
Gibbs RA; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX, 77030, USA.
Cui H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX, 77030, USA.
Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX, 77030, USA.
Manickam K; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Exome Laboratory, Baylor Miraca Genetics Laboratories, Houston, TX, 77030, USA.
Faqeih EA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.
Al Asmari A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.
Saleh MA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.
El-Hattab AW; Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .; The Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, 77030, USA. .; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. .; Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA. .
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Źródło :
BMC medical genomics [BMC Med Genomics] 2016 Jul 19; Vol. 9 (1), pp. 42. Date of Electronic Publication: 2016 Jul 19.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Consanguinity*
Molecular Diagnostic Techniques*
Pedigree*
Sequence Analysis, DNA*
Arabs/*genetics
Exome/*genetics
Nervous System Diseases/*genetics
Cohort Studies ; DNA Copy Number Variations ; Data Mining ; Databases, Genetic ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Nervous System Diseases/diagnosis ; Phenotype ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Autorzy :
Bayram Y
Karaca E
Coban Akdemir Z
Yilmaz EO
Tayfun GA
Aydin H
Torun D
Bozdogan ST
Gezdirici A
Isikay S
Atik MM
Gambin T
Harel T
El-Hattab AW
Charng WL
Pehlivan D
Jhangiani SN
Muzny DM
Karaman A
Celik T
Yuregir OO
Yildirim T
Bayhan IA
Boerwinkle E
Gibbs RA
Elcioglu N
Tuysuz B
Lupski JR
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Źródło :
The Journal of clinical investigation [J Clin Invest] 2016 Feb; Vol. 126 (2), pp. 762-78. Date of Electronic Publication: 2016 Jan 11.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Exome*
Family*
Arthrogryposis/*genetics
Arthrogryposis/pathology ; Female ; Genome-Wide Association Study ; Humans ; Male ; Turkey
Czasopismo naukowe
Tytuł :
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Autorzy :
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Erdin S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Campbell IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat, 49 B 3000 Leuven, Belgium.
Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Isikay S; Department of Child Neurology, Gaziantep Children's Hospital, Gaziantep 27560, Turkey.
Yesil G; Department of Medical Genetics, Bezmialem University, Istanbul 34093, Turkey.
Yuregir OO; Department of Medical Genetics, Numune Training and Research Hospital, Adana 01240, Turkey.
Tug Bozdogan S; Department of Medical Genetics, Mersin University, Mersin 33343, Turkey.
Aslan H; Department of Medical Genetics, Medical Faculty of Eskisehir Osmangazi University, Eskisehir 26480, Turkey.
Aydin H; Department of Medical Genetics, Medical Faculty of Namik Kemal University, Tekirdag 59100, Turkey.
Tos T; Department of Medical Genetics, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
Aksoy A; Department of Pediatric Neurology, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Jain P; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.
Geckinli BB; Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey.
Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey.
Gul D; Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey.
Durmaz B; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Cogulu O; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Ozkinay F; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Topcu V; Department of Medical Genetics, Zekai Tahir Burak Women's Health Training and Research Hospital, Ankara 06230, Turkey.
Candan S; Medical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey.
Cebi AH; Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
Ikbal M; Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
Yilmaz Gulec E; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Gezdirici A; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Koparir E; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Ekici F; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Coskun S; Department of Medical Genetics, Dicle University Faculty of Medicine, Diyarbakir 21280, Turkey.
Cicek S; Medical Genetics Section, Konya Numune Training and Research Hospital, Konya 42250, Turkey.
Karaer K; Intergen Genetic Center, Ankara 06700, Turkey.
Koparir A; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Duz MB; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Kirat E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Fenercioglu E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Ulucan H; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Seven M; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Guran T; Department of Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul 34899, Turkey.
Elcioglu N; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul 34854, Turkey.
Yildirim MS; Department of Genetics, Necmettin Erbakan University, Meram Medical Faculty, Konya 42060, Turkey.
Aktas D; Damagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
Alikaşifoğlu M; Damagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
Ture M; Department of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
Yakut T; Department of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
Overton JD; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Yuksel A; Biruni University, Istanbul 34010, Turkey.
Ozen M; Biruni University, Istanbul 34010, Turkey.
Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Adams DR; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Chung WK; Department of Pediatrics and Medicine, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY 10032, USA.
Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: .
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Źródło :
Neuron [Neuron] 2015 Nov 04; Vol. 88 (3), pp. 499-513.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Brain/*pathology
Gene Regulatory Networks/*genetics
Genetic Variation/*genetics
Mendelian Randomization Analysis/*methods
Nervous System Diseases/*diagnosis
Nervous System Diseases/*genetics
Brain/abnormalities ; Cohort Studies ; Databases, Genetic ; Female ; Genetic Association Studies/methods ; Humans ; Male ; Pedigree
Czasopismo naukowe
Tytuł :
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Autorzy :
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Yuregir OO; Department of Medical Genetics, Numune Training and Research Hospital, Adana, Turkey.
Bozdogan ST; Department of Medical Genetics, Mersin University, Mersin, Turkey.
Aslan H; Department of Medical Genetics, Medical Faculty of Eskisehir Osmangazi University, Eskisehir, Turkey.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Erdin S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
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Corporate Authors :
Baylor-Hopkins Center for Mendelian Genomics
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Nov; Vol. 167A (11), pp. 2795-9. Date of Electronic Publication: 2015 Aug 04.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Klippel-Feil Syndrome/*genetics
Mutation/*genetics
Receptors, Notch/*genetics
Signal Transduction/*genetics
Adolescent ; Base Sequence ; Female ; Humans ; Klippel-Feil Syndrome/diagnostic imaging ; Male ; Molecular Sequence Data ; Pedigree ; Radiography ; Spine/diagnostic imaging
SCR Disease Name :
Klippel Feil syndrome recessive type
Czasopismo naukowe
Tytuł :
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Autorzy :
Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Aydin H; Center of Genetics Diagnosis, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Karaman A; Center of Genetics Diagnosis, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Sep; Vol. 167A (9), pp. 2132-7. Date of Electronic Publication: 2015 Apr 06.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Exome/*genetics
Genetic Predisposition to Disease/*genetics
Membrane Proteins/*genetics
Mutation/*genetics
Orofaciodigital Syndromes/*genetics
Abnormalities, Multiple/genetics ; Cerebellar Diseases/genetics ; Cerebellum/abnormalities ; Child ; Cleft Palate/genetics ; Eye Abnormalities/genetics ; Female ; Hamartoma/genetics ; Homozygote ; Humans ; Kidney Diseases, Cystic/genetics ; Magnetic Resonance Imaging/methods ; Male ; Middle Aged ; Phenotype ; Retina/abnormalities ; Turkey
SCR Disease Name :
Agenesis of Cerebellar Vermis; Orofaciodigital syndrome 6
Czasopismo naukowe
Tytuł :
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
Autorzy :
Bayram Y; Department of Molecular and Human Genetics (Y.B., T.Ga., M.M.A., E.K., D.P., J.R.L.), Baylor College of Medicine, Houston, Texas 77030; Department of Medicine, Division of Medical Genetics (S.G., H.U.G., S.B.P., M.L., T.W., M.-C.K.), University of Washington, Seattle, Washington 98195; Department of Pediatric Endocrinology and Diabetes (T.Gu., Z.A., S.T., A.Be.), Marmara University Hospital, Istanbul, Turkey 34899; Department of Pediatric Endocrinology (A.Ab., E.Bob., A.Bu.), Dokuz Eylül University Faculty of Medicine, Izmir, Turkey 35340; Department of Medical Genetics (G.Y.), Bezmialem University, Istanbul, Turkey 34093; Human Genome Sequencing Center (S.N.J., D.M., E.Boe., R.A.G.), Baylor College of Medicine, Houston, Texas 77030; Human Genetics Center (E.Boe.), University of Texas Health Science Center at Houston, Houston, Texas 77030; Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, Texas 77030; and Texas Children's Hospital (J.R.L.), Houston, Texas 77030.
Gulsuner S
Guran T
Abaci A
Yesil G
Gulsuner HU
Atay Z
Pierce SB
Gambin T
Lee M
Turan S
Bober E
Atik MM
Walsh T
Karaca E
Pehlivan D
Jhangiani SN
Muzny D
Bereket A
Buyukgebiz A
Boerwinkle E
Gibbs RA
King MC
Lupski JR
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Źródło :
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2015 May; Vol. 100 (5), pp. E808-14. Date of Electronic Publication: 2015 Mar 16.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Mutation*
Basic Helix-Loop-Helix Transcription Factors/*genetics
Hypogonadism/*genetics
Adolescent ; Child ; Exome ; Female ; Homozygote ; Humans
Czasopismo naukowe
Tytuł :
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Autorzy :
Yuan B
Pehlivan D
Karaca E
Patel N
Charng WL
Gambin T
Gonzaga-Jauregui C
Sutton VR
Yesil G
Bozdogan ST
Tos T
Koparir A
Koparir E
Beck CR
Gu S
Aslan H
Yuregir OO
Al Rubeaan K
Alnaqeb D
Alshammari MJ
Bayram Y
Atik MM
Aydin H
Geckinli BB
Seven M
Ulucan H
Fenercioglu E
Ozen M
Jhangiani S
Muzny DM
Boerwinkle E
Tuysuz B
Alkuraya FS
Gibbs RA
Lupski JR
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Źródło :
The Journal of clinical investigation [J Clin Invest] 2015 Feb; Vol. 125 (2), pp. 636-51. Date of Electronic Publication: 2015 Jan 09.
Typ publikacji :
Clinical Trial; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Codon, Nonsense*
De Lange Syndrome*/genetics
De Lange Syndrome*/metabolism
De Lange Syndrome*/pathology
Exome*
Gene Expression Regulation*
Phenotype*
Transcriptome*
Adolescent ; Adult ; Cell Cycle Proteins/biosynthesis ; Cell Cycle Proteins/genetics ; Child ; Child, Preschool ; Chondroitin Sulfate Proteoglycans/biosynthesis ; Chondroitin Sulfate Proteoglycans/genetics ; Chromosomal Proteins, Non-Histone/biosynthesis ; Chromosomal Proteins, Non-Histone/genetics ; Exonucleases ; Gene Expression Profiling ; Genome-Wide Association Study ; Heterozygote ; Histone Deacetylases/biosynthesis ; Histone Deacetylases/genetics ; Histone-Lysine N-Methyltransferase ; Humans ; Infant ; Male ; Myeloid-Lymphoid Leukemia Protein/biosynthesis ; Myeloid-Lymphoid Leukemia Protein/genetics ; Proteins/genetics ; Proteins/metabolism ; Repressor Proteins/biosynthesis ; Repressor Proteins/genetics
Czasopismo naukowe
Tytuł :
Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
Autorzy :
Karaca E; Department of Molecular and Human Genetics (E.K., D.P., W.-L.C., Y.B., T.G., M.W., M.M.A., R.A.G., J.R.L.), Baylor College of Medicine, Houston, Texas 77030; Department of Radiology (R.B.), Duzce University Medical School, 81620 Duzce, Turkey; Department of Medical Biology (K.O.Y.), Kahramanmaras Sutcu Imam University, Medical School, 46100 Kahramanmaras, Turkey; Department of Pediatric Endocrinology (I.A., S.B.), Duzce University Medical School, 81620 Duzce, Turkey; Center for Human Genetic Research (S.E.), Massachussetts General Hospital, Boston, Massachussetts 02114; Department of Radiology (A.B.), Duzce Ataturk Community Hospital, 81620 Duzce, Turkey; Department of Medical Biology and Genetics (E.Y.), Duzce University Institute of Health Science, 81620 Duzce, Turkey; Human Genome Sequencing Center (S.N.J., D.M.M., R.A.G.), Baylor College of Medicine, Houston Texas 77030; Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, Texas 77030; and Texas Children's Hospital (J.R.L.), Houston, Texas 77030.
Buyukkaya R
Pehlivan D
Charng WL
Yaykasli KO
Bayram Y
Gambin T
Withers M
Atik MM
Arslanoglu I
Bolu S
Erdin S
Buyukkaya A
Yaykasli E
Jhangiani SN
Muzny DM
Gibbs RA
Lupski JR
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Źródło :
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2015 Jan; Vol. 100 (1), pp. E140-7.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Hypopituitarism/*genetics
Pituitary Gland/*abnormalities
Receptors, G-Protein-Coupled/*genetics
Adolescent ; Child, Preschool ; Exome ; Female ; Genome-Wide Association Study ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Autorzy :
Okamoto Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Goksungur MT; Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Gonzaga-Jauregui C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Matur Z; Department of Neurology, Istanbul Bilim University, Faculty of Medicine, Istanbul, Turkey.
Bayraktar S; Department of Opthalmology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Boone PM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Akyuz K; Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Battaloglu E; Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
Parman Y; Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2014 May; Vol. 16 (5), pp. 386-394. Date of Electronic Publication: 2013 Oct 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Cell Cycle Proteins/*genetics
Charcot-Marie-Tooth Disease/*genetics
DNA Copy Number Variations/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
Refsum Disease/*genetics
Adult ; Base Sequence ; Comparative Genomic Hybridization ; Female ; Gene Duplication ; Gene Expression ; Genes, Recessive ; Humans ; Male ; Mutation ; Sequence Analysis, DNA ; Turkey ; Young Adult
SCR Disease Name :
Neuropathy, hereditary motor and sensory, LOM type
Czasopismo naukowe
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