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Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Evers, Christina; Staufner, Christian; Granzow, Martin; Paramasivam, Nagarajan; Hinderhofer, Katrin; Kaufmann, Lilian; Fischer, Christine; Thiel, Christian; Opladen, Thomas; Kotzaeridou, Urania; Wiemann, Stefan; Schlesner, Matthias; Eils, Roland; Kölker, Stefan; Bartram, Claus R; Hoffmann, Georg F; Moog, Ute.
Afiliação
  • Evers C; Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany. Electronic address: christina.evers@med.uni-heidelberg.de.
  • Staufner C; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Granzow M; Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
  • Paramasivam N; Medical Faculty Heidelberg, Heidelberg University, 69120 Heidelberg, Germany; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
  • Hinderhofer K; Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
  • Kaufmann L; Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
  • Fischer C; Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
  • Thiel C; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Opladen T; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Kotzaeridou U; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Wiemann S; Genomics & Proteomics Core Facility, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany.
  • Schlesner M; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.
  • Eils R; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany; Department for Bioinformatics and Functional Genomics, Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University, 69120 Heidelberg, Ge
  • Kölker S; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Bartram CR; Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
  • Hoffmann GF; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
  • Moog U; Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.
Mol Genet Metab ; 121(4): 297-307, 2017 08.
Article em En | MEDLINE | ID: mdl-28688840
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Técnicas de Diagnóstico Molecular / Exoma / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Técnicas de Diagnóstico Molecular / Exoma / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2017 Tipo de documento: Article