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Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Boschann, Felix; Cogulu, Muhsin Ö; Pehlivan, Davut; Balachandran, Saranya; Vallecillo-Garcia, Pedro; Grochowski, Christopher M; Hansmeier, Nils R; Coban Akdemir, Zeynep H; Prada-Medina, Cesar A; Aykut, Ayca; Fischer-Zirnsak, Björn; Badura, Simon; Durmaz, Burak; Ozkinay, Ferda; Hägerling, René; Posey, Jennifer E; Stricker, Sigmar; Gillessen-Kaesbach, Gabriele; Spielmann, Malte; Horn, Denise; Brockmann, Knut; Lupski, James R; Kornak, Uwe; Schmidt, Julia.
Afiliação
  • Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Cogulu MÖ; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Hous
  • Balachandran S; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, Kiel University, Kiel, Germany.
  • Vallecillo-Garcia P; Institute of Biochemistry, Freie University Berlin, Berlin, Germany.
  • Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Hansmeier NR; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; BIH Center for Regener
  • Coban Akdemir ZH; Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, The University of Texas, Houston, TX.
  • Prada-Medina CA; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Aykut A; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Badura S; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.
  • Durmaz B; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Ozkinay F; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Hägerling R; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; BIH Center for Regener
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Stricker S; Institute of Biochemistry, Freie University Berlin, Berlin, Germany.
  • Gillessen-Kaesbach G; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
  • Spielmann M; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, Kiel University, Kiel, Germany.
  • Horn D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Brockmann K; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.
  • Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Human Gen
  • Schmidt J; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Genet Med ; 24(10): 2187-2193, 2022 10.
Article em En | MEDLINE | ID: mdl-35962790
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Contratura Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Contratura Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha