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Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
Meyer, Robert; Soellner, Lukas; Begemann, Matthias; Dicks, Severin; Fekete, György; Rahner, Nils; Zerres, Klaus; Elbracht, Miriam; Eggermann, Thomas.
Afiliação
  • Meyer R; Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany.
  • Soellner L; Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany.
  • Begemann M; Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany.
  • Dicks S; Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany.
  • Fekete G; Second Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Rahner N; University Clinic Düsseldorf, Institute of Human Genetics, Düsseldorf, Germany.
  • Zerres K; Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany.
  • Elbracht M; Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany.
  • Eggermann T; Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany. Electronic address: teggermann@ukaachen.de.
J Pediatr ; 187: 206-212.e1, 2017 08.
Article em En | MEDLINE | ID: mdl-28529015
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Silver-Russell / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Silver-Russell / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha