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Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
Sachwitz, Jana; Strobl-Wildemann, Getrud; Fekete, György; Ambrozaityte, Laima; Kucinskas, Vaidutis; Soellner, Lukas; Begemann, Matthias; Eggermann, Thomas.
  • Sachwitz J; Institute of Human Genetics, RWTH Aachen, Pauwelsstr. 30, Aachen, Germany.
  • Strobl-Wildemann G; Praxis für Humangenetik, Ulm, Germany.
  • Fekete G; II. Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Ambrozaityte L; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Kucinskas V; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Soellner L; Institute of Human Genetics, RWTH Aachen, Pauwelsstr. 30, Aachen, Germany.
  • Begemann M; Institute of Human Genetics, RWTH Aachen, Pauwelsstr. 30, Aachen, Germany.
  • Eggermann T; Institute of Human Genetics, RWTH Aachen, Pauwelsstr. 30, Aachen, Germany. teggermann@ukaachen.de.
BMC Med Genet ; 17: 20, 2016 Mar 11.
Article en En | MEDLINE | ID: mdl-26969265
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Disomía Uniparental / Síndrome de Silver-Russell Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Infant / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Disomía Uniparental / Síndrome de Silver-Russell Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Infant / Male Idioma: En Año: 2016 Tipo del documento: Article