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Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
Evers, Christina; Seitz, Angelika; Assmann, Birgit; Opladen, Thomas; Karch, Stephanie; Hinderhofer, Katrin; Granzow, Martin; Paramasivam, Nagarajan; Eils, Roland; Diessl, Nicolle; Bartram, Claus R; Moog, Ute.
Afiliação
  • Evers C; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Seitz A; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.
  • Assmann B; Center for Child and Adolescent Medicine, Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany.
  • Opladen T; Center for Child and Adolescent Medicine, Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany.
  • Karch S; Center for Child and Adolescent Medicine, Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany.
  • Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Granzow M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Paramasivam N; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Eils R; Medical Faculty Heidelberg, Heidelberg University, Germany.
  • Diessl N; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Bartram CR; Department for Bioinformatics and Functional Genomics, Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University, Heidelberg, Germany.
  • Moog U; Genomics and Proteomics Core Facility (GPCF), High Throughput Sequencing, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Am J Med Genet A ; 173(7): 1878-1886, 2017 Jul.
Article em En | MEDLINE | ID: mdl-28489334

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha