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LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.
Al-Amri, Ahmed H; Al Saegh, Abeer; Al-Mamari, Watfa; El-Asrag, Mohammed E; Al-Kindi, Mohammed N; Al Khabouri, Mazin; Al Wardy, Nadia; Al Lamki, Khalsa; Gabr, Ahlam; Idris, Ahmed; Inglehearn, Chris F; Clapcote, Steven J; Ali, Manir.
Afiliação
  • Al-Amri AH; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom; School of Biomedical Sciences, University of Leeds, United Kingdom; National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Oman.
  • Al Saegh A; Genetic & Developmental Medicine Clinic, Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman.
  • Al-Mamari W; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.
  • El-Asrag ME; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.
  • Al-Kindi MN; Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman.
  • Al Khabouri M; Department of Ear, Nose & Throat, Al Nahdha Hospital, Ministry of Health, Muscat, Oman.
  • Al Wardy N; Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman.
  • Al Lamki K; Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman.
  • Gabr A; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.
  • Idris A; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.
  • Inglehearn CF; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom.
  • Clapcote SJ; School of Biomedical Sciences, University of Leeds, United Kingdom.
  • Ali M; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom. Electronic address: m.ali@leeds.ac.uk.
Eur J Med Genet ; 62(12): 103592, 2019 Dec.
Article em En | MEDLINE | ID: mdl-30476627
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Surdez / Proteínas de Membrana Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Surdez / Proteínas de Membrana Idioma: En Ano de publicação: 2019 Tipo de documento: Article