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SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.
Yahalom, Claudia; Volovelsky, Oded; Macarov, Michal; Altalbishi, Alaa; Alsweiti, Yahya; Schneider, Nina; Hanany, Mor; Khan, Muhammad Imran; Cremers, Frans P M; Anteby, Irene; Banin, Eyal; Sharon, Dror; Khateb, Samer.
Afiliação
  • Yahalom C; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Volovelsky O; Pediatric Nephrology Unit, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Macarov M; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Altalbishi A; St John of Jerusalem Eye Hospital Group, East Jerusalem, Israel.
  • Alsweiti Y; St John of Jerusalem Eye Hospital Group, East Jerusalem, Israel.
  • Schneider N; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Hanany M; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Khan MI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands ; and.
  • Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands ; and.
  • Anteby I; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands .
  • Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Khateb S; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Retina ; 41(10): 2179-2187, 2021 Oct 01.
Article em En | MEDLINE | ID: mdl-33512896
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a Calmodulina / Proteínas / Atrofias Ópticas Hereditárias / Proteínas do Citoesqueleto / Proteínas Adaptadoras de Transdução de Sinal / Doenças Renais Císticas / Amaurose Congênita de Leber / Ciliopatias / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Retina Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Israel
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a Calmodulina / Proteínas / Atrofias Ópticas Hereditárias / Proteínas do Citoesqueleto / Proteínas Adaptadoras de Transdução de Sinal / Doenças Renais Císticas / Amaurose Congênita de Leber / Ciliopatias / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Retina Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Israel