Zobrazeno 1 - 8
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pro vyhledávání: '"Shannon NL"'
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Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Hardcastle A; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, Utah, USA., Berry AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Gerard AE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Sisoudiya SD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Loddo S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Di Tommaso S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Capolino R; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Digilio MC; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Graziani L; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy., Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Neas K; Genetic Health Service NZ, Wellington, New Zealand., Ferrero GB; Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy., Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Città della Salute e della Scienza University Hospital, Torino, Italy., Di Gregorio E; Città della Salute e della Scienza University Hospital, Torino, Italy., Wellesley D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, Hampshire, UK.; University Hospital Southampton, Southampton, Hampshire, UK., Beneteau C; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France., Joubert M; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France., Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., Boogaerts A; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., McMullan DJ; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, UK., Dean J; Clinical Genetics Service, Ashgrove House, NHS Grampian, Aberdeen, UK., Giuffrida MG; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Bernardini L; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Varghese V; All Wales Medical Genomics Service, Cardiff, UK., Shannon NL; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Harrison RE; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Lam WWK; South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, Scotland, UK., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Turnpenny PD; Clinical Genetics Department, Royal Devon and Exeter Hospital, Exeter, UK., Cole T; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK., Morton J; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK., Eason J; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Jones MC; University of California, San Diego and Rady Children's Hospital, San Diego, California, USA., Hall R; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Wright M; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Horridge K; South Tyneside and Sunderland NHS Foundation Trust, Sunderland, UK., Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Chung WK; Department of Pediatrics, Columbia University, New York, USA.; Department of Medicine, Columbia University, New York, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2958-2968. Date of Electronic Publication: 2022 Jul 29.
Autor:
Giunta C; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland., Baumann M; Department of Pediatrics I, Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria., Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Lindert U; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland., Abdalla EM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Brady AF; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK., Collins J; Mercy Clinic Pediatric Neurology, Springfield, Missouri, and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Dastgir J; Pediatric Neurology, Goryeb Children's Hospital, Morristown, New Jersey, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Ghali N; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK., Johnson DS; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Koch J; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Kraenzlin M; Medical Faculty of the University of Basel, and Clinic for Endocrinology, Diabetes & Metabolism, University Hospital Basel, Basel, Switzerland., Lahiri N; South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, UK., Lozic B; Department of Pediatrics University Hospital Centre Split, Split, Croatia., Manzur AY; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK., Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK., Pilch J; Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland., Pollitt RC; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Schreiber G; Department of Pediatric Neurology, Children's Hospital, Kassel, Germany., Shannon NL; Nottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, UK., Sobey G; Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK., Vandersteen A; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., van Dijk FS; Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK., Witsch-Baumgartner M; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Zschocke J; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Pope FM; North West Thames Regional Genetics Service, Kennedy Galton Centre, London, UK., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Rohrbach M; Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Jan; Vol. 20 (1), pp. 42-54. Date of Electronic Publication: 2017 Jun 15.