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Genotype and phenotype spectrum of NRAS germline variants.
Altmüller, Franziska; Lissewski, Christina; Bertola, Debora; Flex, Elisabetta; Stark, Zornitza; Spranger, Stephanie; Baynam, Gareth; Buscarilli, Michelle; Dyack, Sarah; Gillis, Jane; Yntema, Helger G; Pantaleoni, Francesca; van Loon, Rosa LE; MacKay, Sara; Mina, Kym; Schanze, Ina; Tan, Tiong Yang; Walsh, Maie; White, Susan M; Niewisch, Marena R; García-Miñaúr, Sixto; Plaza, Diego; Ahmadian, Mohammad Reza; Cavé, Hélène; Tartaglia, Marco; Zenker, Martin.
Afiliação
  • Altmüller F; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Lissewski C; RG Presynaptic Plasticity, Leibniz Institute for Neurobiology, Magdeburg, Germany.
  • Bertola D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Flex E; Unidade de Genética do Instituto da Criança-Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
  • Stark Z; Centro de Pesquisa sobre o Genoma Humano e Células-Tronco - Instituto de Biociências da Universidade de São Paulo, São Paulo, Brazil.
  • Spranger S; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Baynam G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Buscarilli M; Praxis für Humangenetik, Bremen, Germany.
  • Dyack S; Genetic Services of Western Australia, WA Department of Health, Perth, Western Australia, Australia.
  • Gillis J; School of Paediatrics and Child Health, Perth, Western Australia, Australia.
  • Yntema HG; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.
  • Pantaleoni F; Office of Population Health Genomics, Public Health and Clinical Services Division, WA Department of Health, Perth, Western Australia, Australia.
  • van Loon RL; Telethon Kids Institute, Perth, Western Australia, Australia.
  • MacKay S; Western Australian Register of Developmental Anomalies, WA Department of Health, Perth, Western Australia, Australia.
  • Mina K; Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, Western Australia, Australia.
  • Schanze I; Unidade de Genética do Instituto da Criança-Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
  • Tan TY; Department of Paediatrics and Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Walsh M; Department of Pediatrics, University of British Columbia, Division of Biochemical Diseases, BC Children's Hospital, Vancouver, British Columbia, Canada.
  • White SM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Niewisch MR; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • García-Miñaúr S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Plaza D; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
  • Ahmadian MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Perth, Western Australia, Australia.
  • Cavé H; School of Pathology and Laboratory Medicine, The University of Western Australia, Perth, Western Australia, Australia.
  • Tartaglia M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Zenker M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Eur J Hum Genet ; 25(7): 823-831, 2017 06.
Article em En | MEDLINE | ID: mdl-28594414
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Mutação em Linhagem Germinativa / Insuficiência de Crescimento / Síndrome de Costello / GTP Fosfo-Hidrolases / Cardiopatias Congênitas / Proteínas de Membrana / Síndrome de Noonan Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Mutação em Linhagem Germinativa / Insuficiência de Crescimento / Síndrome de Costello / GTP Fosfo-Hidrolases / Cardiopatias Congênitas / Proteínas de Membrana / Síndrome de Noonan Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article