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Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.
Haug, Patricia; Koller, Samuel; Maggi, Jordi; Lang, Elena; Feil, Silke; Wlodarczyk, Agnès; Bähr, Luzy; Steindl, Katharina; Rohrbach, Marianne; Gerth-Kahlert, Christina; Berger, Wolfgang.
Afiliación
  • Haug P; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
  • Koller S; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
  • Maggi J; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
  • Lang E; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
  • Feil S; Department of Ophthalmology, University Hospital and University of Zurich, 8091 Zurich, Switzerland.
  • Wlodarczyk A; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
  • Bähr L; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
  • Steindl K; Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.
  • Rohrbach M; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.
  • Gerth-Kahlert C; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, 8032 Zurich, Switzerland.
  • Berger W; Department of Ophthalmology, University Hospital and University of Zurich, 8091 Zurich, Switzerland.
Genes (Basel) ; 12(1)2021 01 06.
Article en En | MEDLINE | ID: mdl-33418956
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Coloboma / Microftalmía / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Coloboma / Microftalmía / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Suiza