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DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
Dikow, Nicola; Granzow, Martin; Graul-Neumann, Luitgard M; Karch, Stephanie; Hinderhofer, Katrin; Paramasivam, Nagarajan; Behl, Laura-Jane; Kaufmann, Lilian; Fischer, Christine; Evers, Christina; Schlesner, Matthias; Eils, Roland; Borck, Guntram; Zweier, Christiane; Bartram, Claus R; Carey, John C; Moog, Ute.
Afiliação
  • Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Granzow M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Graul-Neumann LM; Ambulantes Gesundheitszentrum Humangenetik, Charité Universitätsmedizin Berlin, Berlin, 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.
  • Paramasivam N; Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany.
  • Behl LJ; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Kaufmann L; Genomics and Proteomics Core Facility, High Throughput Sequencing, German Cancer Research Center, Heidelberg, Germany.
  • Fischer C; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Evers C; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Schlesner M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Eils R; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Borck G; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Zweier C; Department for Bioinformatics and Functional Genomics, Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University, Heidelberg, Germany.
  • Bartram CR; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Carey JC; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Moog U; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Am J Med Genet A ; 173(5): 1369-1373, 2017 May.
Article em En | MEDLINE | ID: mdl-28371085
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Anormalidades Urogenitais / Deformidades Congênitas dos Membros / Anormalidades Craniofaciais / RNA Helicases DEAD-box / Agenesia do Corpo Caloso / Cardiopatias Congênitas / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Anormalidades Urogenitais / Deformidades Congênitas dos Membros / Anormalidades Craniofaciais / RNA Helicases DEAD-box / Agenesia do Corpo Caloso / Cardiopatias Congênitas / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article