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The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
Becker, Lena-Luise; Dafsari, Hormos Salimi; Schallner, Jens; Abdin, Dalia; Seifert, Michael; Petit, Florence; Smol, Thomas; Bok, Levinus; Rodan, Lance; Krapels, Ingrid; Spranger, Stephanie; Weschke, Bernhard; Johnson, Katherine; Straub, Volker; Kaindl, Angela M; Di Donato, Nataliya; von der Hagen, Maja; Cirak, Sebahattin.
Afiliación
  • Becker LL; Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Center for Chronically Sick Children, Institute of Cell- and Neurobiology, Berlin, Germany.
  • Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
  • Schallner J; Department of Neuropediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Abdin D; Carl Gustav Carus Faculty of Medicine, Institute for Clinical Genetics, Technische Universität Dresden, Dresden, Germany.
  • Seifert M; Human Cytogenetics Department, National Research Centre, Cairo, Egypt.
  • Petit F; Carl Gustav Carus Faculty of Medicine, Institute for Medical Informatics and Biometry, Dresden, Germany.
  • Smol T; University of Lille, EA 7364-RADEME, Lille, France.
  • Bok L; CHU Lille, Hôpital Jeanne de Flandre, Service de Génétique Clinique, Avenue Eugène Avinée, Lille, France.
  • Rodan L; University of Lille, EA 7364-RADEME, Lille, France.
  • Krapels I; CHU Lille, Hôpital Jeanne de Flandre, Service de Génétique Clinique, Institut de Génétique Médicale, Lille, France.
  • Spranger S; Department of Pediatrics, Máxima Medical Center, Veldhoven, The Netherlands.
  • Weschke B; Department of Pediatrics and Neurology, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Johnson K; Department of Clinical Genetics Maastricht, University Medical Center, Maastricht, The Netherlands.
  • Straub V; Practice for Human Genetics, Bremen, Germany.
  • Kaindl AM; Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Center for Chronically Sick Children, Institute of Cell- and Neurobiology, Berlin, Germany.
  • Di Donato N; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospital NHS Foundation Trust, Newcastle upon Tyne, UK.
  • von der Hagen M; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospital NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Cirak S; Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Center for Chronically Sick Children, Institute of Cell- and Neurobiology, Berlin, Germany.
J Hum Genet ; 65(11): 1003-1017, 2020 Nov.
Article en En | MEDLINE | ID: mdl-32788638
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encéfalo / Atrofia Muscular Espinal / Genómica / Dineínas Citoplasmáticas Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encéfalo / Atrofia Muscular Espinal / Genómica / Dineínas Citoplasmáticas Tipo de estudio: Clinical_trials / Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Alemania