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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
Ansar, Muhammad; Chung, Hyunglok; Waryah, Yar M; Makrythanasis, Periklis; Falconnet, Emilie; Rao, Ali Raza; Guipponi, Michel; Narsani, Ashok K; Fingerhut, Ralph; Santoni, Federico A; Ranza, Emmanuelle; Waryah, Ali M; Bellen, Hugo J; Antonarakis, Stylianos E.
Afiliação
  • Ansar M; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Chung H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Waryah YM; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.
  • Makrythanasis P; Molecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
  • Falconnet E; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Rao AR; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Guipponi M; Molecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
  • Narsani AK; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Fingerhut R; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
  • Santoni FA; Institute of Ophthalmology, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
  • Ranza E; Swiss Newborn Screening Laboratory, University Children's Hospital, Zurich, Switzerland.
  • Waryah AM; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Bellen HJ; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Antonarakis SE; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
Hum Mol Genet ; 27(15): 2703-2711, 2018 08 01.
Article em En | MEDLINE | ID: mdl-29771303
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos da Visão / Proteínas Serina-Treonina Quinases / Oftalmopatias Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos da Visão / Proteínas Serina-Treonina Quinases / Oftalmopatias Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça