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Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Antonarakis, Stylianos E; Holoubek, Ales; Rapti, Melivoia; Rademaker, Jesse; Meylan, Jenny; Iwaszkiewicz, Justyna; Zoete, Vincent; Wilson, Callum; Taylor, Juliet; Ansar, Muhammad; Borel, Christelle; Menzel, Olivier; Kuzelová, Katerina; Santoni, Federico A.
Afiliação
  • Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland.
  • Holoubek A; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland.
  • Rapti M; Department of Proteomics, Institute of Hematology and Blood Transfusion, Prague 12820, Czech Republic.
  • Rademaker J; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland.
  • Meylan J; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland.
  • Iwaszkiewicz J; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland.
  • Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
  • Wilson C; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
  • Taylor J; Department of Fundamental Oncology, Ludwig Institute for Cancer Research, Lausanne University, Epalinges 1066, Switzerland.
  • Ansar M; National Metabolic Service, Starship Children's Hospital, Auckland 1142, New Zealand.
  • Borel C; Genetic Health Services New Zealand - Northern Hub, Auckland City Hospital, Auckland 1142, New Zealand.
  • Menzel O; Institute of Molecular and Clinical Ophtalmology Basel (IOB), Basel 4031, Switzerland.
  • Kuzelová K; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland.
  • Santoni FA; Health 2030 Genome Center, Foundation Campus Biotech Geneva Foundation, Geneva 1202, Switzerland.
Hum Mol Genet ; 31(1): 1-9, 2021 12 17.
Article em En | MEDLINE | ID: mdl-33693784
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Descolamento Retiniano Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Descolamento Retiniano Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suíça