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CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Schulz, Yvonne; Freese, Luisa; Mänz, Johanna; Zoll, Barbara; Völter, Christiane; Brockmann, Knut; Bögershausen, Nina; Becker, Jutta; Wollnik, Bernd; Pauli, Silke.
Afiliação
  • Schulz Y; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Freese L; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Mänz J; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Zoll B; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Völter C; Phoniatrics and Pedaudiology, Department of Otorhinolaryngology, University Medical Center Göttingen, 37075 Göttingen, Germany.
  • Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, 37075 Göttingen, Germany.
  • Bögershausen N; Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, G
  • Becker J; Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany.
  • Wollnik B; Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, G
  • Pauli S; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany spauli@gwdg.de.
Hum Mol Genet ; 23(16): 4396-405, 2014 Aug 15.
Article em En | MEDLINE | ID: mdl-24705355
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Vestibulares / DNA Helicases / Proteínas de Ligação a DNA / Face / Síndrome CHARGE / Doenças Hematológicas / Proteínas de Neoplasias Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Vestibulares / DNA Helicases / Proteínas de Ligação a DNA / Face / Síndrome CHARGE / Doenças Hematológicas / Proteínas de Neoplasias Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article