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Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle, Stephanie; Scholz, Veronika; Benet-Pagés, Anna; Wohlfrom, Tobias; Gehling, Stefanie; Scharf, Florentine; Rost, Simone; Prott, Eva-Christina; Grinzinger, Susanne; Hotter, Anna; Haug, Verena; Niemeier, Sabine; Wiethoff-Ubrig, Lucia; Hagenacker, Tim; Goldhahn, Klaus; von Moers, Arpad; Walter, Maggie C; Reilich, Peter; Eggermann, Katja; Kraft, Florian; Kurth, Ingo; Erdmann, Hannes; Holinski-Feder, Elke; Neuhann, Teresa; Abicht, Angela.
Afiliação
  • Kleinle S; Medical Genetics Center, Munich, Germany.
  • Scholz V; Medical Genetics Center, Munich, Germany.
  • Benet-Pagés A; Medical Genetics Center, Munich, Germany.
  • Wohlfrom T; Institute of Neurogenomics, Helmholtz Center Munich, Neuherberg, Germany.
  • Gehling S; Medical Genetics Center, Munich, Germany.
  • Scharf F; Medical Genetics Center, Munich, Germany.
  • Rost S; Medical Genetics Center, Munich, Germany.
  • Prott EC; Medical Genetics Center, Munich, Germany.
  • Grinzinger S; Practice for Human Genetic, Wuppertal, Germany.
  • Hotter A; Christian Doppler Clinic, Neurology, University Hospital Salzburg, Salzburg, Austria.
  • Haug V; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Niemeier S; Neuropediatrics, University Medical Center Mainz, Mainz, Germany.
  • Wiethoff-Ubrig L; Westbrandenburg Clinic, Neuropediatrics, Potsdam, Germany.
  • Hagenacker T; Children's and Adolescents' Hospital Datteln, Neuropediatrics, Witten/Herdecke University, Datteln, Germany.
  • Goldhahn K; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germany.
  • von Moers A; Department of Pediatrics and Neuropediatrics, DRK Clinics Berlin, Berlin, Germany.
  • Walter MC; Department of Pediatrics and Neuropediatrics, DRK Clinics Berlin, Berlin, Germany.
  • Reilich P; Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.
  • Eggermann K; Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.
  • Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Erdmann H; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Holinski-Feder E; Medical Genetics Center, Munich, Germany.
  • Neuhann T; Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.
  • Abicht A; Medical Genetics Center, Munich, Germany.
J Neuromuscul Dis ; 10(5): 835-846, 2023.
Article em En | MEDLINE | ID: mdl-37424474
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Doenças Neuromusculares Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans Idioma: En Revista: J Neuromuscul Dis Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Doenças Neuromusculares Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans Idioma: En Revista: J Neuromuscul Dis Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha