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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra, Dineke; Schouten, Meyke I; Stunnenberg, Bas C; Kusters, Benno; Saris, Christiaan G J; Erasmus, Corrie E; van Engelen, Baziel G; Bulk, Saskia; Verschuuren-Bemelmans, Corien C; Gerkes, E H; de Geus, Christa; van der Zwaag, P A; Chan, Sophelia; Chung, Brian; Barge-Schaapveld, Daniela Q C M; Kriek, Marjolein; Sznajer, Yves; van Spaendonck-Zwarts, Karin; van der Kooi, Anneke J; Krause, Amanda; Schönewolf-Greulich, Bitten; de Die-Smulders, Christine; Sallevelt, Suzanne C E H; Krapels, Ingrid P C; Rasmussen, Magnhild; Maystadt, Isabelle; Kievit, Anneke J A; Witting, Nanna; Pennings, Maartje; Meijer, Rowdy; Gillissen, Christian; Kamsteeg, Erik-Jan; Voermans, Nicol C.
Affiliation
  • Westra D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schouten MI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Stunnenberg BC; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kusters B; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Saris CGJ; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Erasmus CE; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Engelen BG; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bulk S; Service de Génétique Humaine, CHU de Liège, Liège, Belgium.
  • Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Gerkes EH; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • de Geus C; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • van der Zwaag PA; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Chan S; Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong.
  • Chung B; Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong.
  • Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Sznajer Y; Center de Génétique Humaine, Clinique Universitaires Saint Luc, Bruxelles, Belgium.
  • van Spaendonck-Zwarts K; Department of Clinical Genetics, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
  • van der Kooi AJ; Department of Neurology, Amsterdam Medical Center, Amsterdam UMC, University of Amsterdam, Neuroscience institute, Amsterdam, The Netherlands.
  • Krause A; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.
  • Schönewolf-Greulich B; Department of Clinical Genetics, Rigshospitalet Copenhagen, Denmark.
  • de Die-Smulders C; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Rasmussen M; Department of Child Neurology and Unit for Congenital and Inherited Neuromuscular Disorders, Oslo University Hospital, Oslo, Norway.
  • Maystadt I; Center de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Kievit AJA; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Witting N; Department of Neurology, Rigshospitalet, Copenhagen, Denmark.
  • Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Meijer R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gillissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
J Neuromuscul Dis ; 6(2): 241-258, 2019.
Article in En | MEDLINE | ID: mdl-31127727
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Full text: 1 Database: MEDLINE Main subject: Exome Sequencing / Neuromuscular Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Year: 2019 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Exome Sequencing / Neuromuscular Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Year: 2019 Type: Article