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Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Smogavec, Mateja; Gerykova Bujalkova, Maria; Lehner, Reinhard; Neesen, Jürgen; Behunova, Jana; Yerlikaya-Schatten, Gülen; Reischer, Theresa; Altmann, Reinhard; Weis, Denisa; Duba, Hans-Christoph; Laccone, Franco.
Afiliación
  • Smogavec M; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria. mateja.smogavec@meduniwien.ac.at.
  • Gerykova Bujalkova M; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Lehner R; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Neesen J; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Behunova J; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Yerlikaya-Schatten G; Division of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria.
  • Reischer T; Division of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria.
  • Altmann R; Department of Prenatal Medicine, Kepler University Hospital, School of Medicine, Johannes Kepler University, Linz, Austria.
  • Weis D; Department of Medical Genetics, Kepler University Hospital, School of Medicine, Johannes Kepler University, Linz, Austria.
  • Duba HC; Department of Medical Genetics, Kepler University Hospital, School of Medicine, Johannes Kepler University, Linz, Austria.
  • Laccone F; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
Eur J Hum Genet ; 30(4): 428-438, 2022 04.
Article en En | MEDLINE | ID: mdl-34974531
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Exoma Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Pregnancy Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Exoma Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Pregnancy Idioma: En Año: 2022 Tipo del documento: Article