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Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang, Elena; Koller, Samuel; Atac, David; Pfäffli, Oliver A; Hanson, James V M; Feil, Silke; Bähr, Luzy; Bahr, Angela; Kottke, Raimund; Joset, Pascal; Fasler, Katrin; Barthelmes, Daniel; Steindl, Katharina; Konrad, Daniel; Wille, David-Alexander; Berger, Wolfgang; Gerth-Kahlert, Christina.
Afiliação
  • Lang E; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
  • Koller S; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
  • Atac D; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
  • Pfäffli OA; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
  • Hanson JVM; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
  • Feil S; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
  • Bähr L; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
  • Bahr A; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
  • Kottke R; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Joset P; Department of Diagnostic Imaging, University Children's Hospital Zurich, Zurich, Switzerland.
  • Fasler K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Barthelmes D; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
  • Steindl K; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
  • Konrad D; Save Sight Institute, The University of Sydney, Sydney, NSW, Australia.
  • Wille DA; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Berger W; Department of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.
  • Gerth-Kahlert C; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
Acta Ophthalmol ; 99(4): e594-e607, 2021 Jun.
Article em En | MEDLINE | ID: mdl-32996714
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA / Microftalmia / Proteínas de Membrana / Mutação Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA / Microftalmia / Proteínas de Membrana / Mutação Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article