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Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
Pater, Justin A; Green, Jane; O'Rielly, Darren D; Griffin, Anne; Squires, Jessica; Burt, Taylor; Fernandez, Sara; Fernandez, Bridget; Houston, Jim; Zhou, Jiayi; Roslin, Nicole M; Young, Terry-Lynn.
Affiliation
  • Pater JA; Craig L. Dobbin Research Centre, Discipline of Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland & Labrador, AIB 3V6, Canada.
  • Green J; Craig L. Dobbin Research Centre, Discipline of Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland & Labrador, AIB 3V6, Canada.
  • O'Rielly DD; Molecular Diagnostic Laboratory, Eastern Health, Craig L. Dobbin Genetics Research Centre, Faculty of Medicine, Memorial University, 300 Prince Phillip Drive, St. John's, Newfoundland and Labrador, A1B 3V6, Canada.
  • Griffin A; Craig L. Dobbin Research Centre, Discipline of Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland & Labrador, AIB 3V6, Canada.
  • Squires J; Craig L. Dobbin Research Centre, Discipline of Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland & Labrador, AIB 3V6, Canada.
  • Burt T; Craig L. Dobbin Research Centre, Discipline of Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland & Labrador, AIB 3V6, Canada.
  • Fernandez S; Provincial Medical Genetics, Craig L. Dobbin Research Centre, Eastern Health, 300 Prince Phillip Drive, St. John's, Newfoundland and Labrador, A1B 3V6, Canada.
  • Fernandez B; Craig L. Dobbin Research Centre, Discipline of Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland & Labrador, AIB 3V6, Canada.
  • Houston J; Provincial Medical Genetics, Craig L. Dobbin Research Centre, Eastern Health, 300 Prince Phillip Drive, St. John's, Newfoundland and Labrador, A1B 3V6, Canada.
  • Zhou J; Craig L. Dobbin Research Centre, Discipline of Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland & Labrador, AIB 3V6, Canada.
  • Roslin NM; Craig L. Dobbin Research Centre, Discipline of Genetics, Faculty of Medicine, Memorial University, St. John's, Newfoundland & Labrador, AIB 3V6, Canada.
  • Young TL; The Centre for Applied Genomics, The Hospital for Sick Children, 686 Bay Street, Toronto, Ontario, M5G 0A4, Canada.
BMC Med Genet ; 20(1): 68, 2019 05 02.
Article in En | MEDLINE | ID: mdl-31046701
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Usher Syndromes / Deaf-Blind Disorders Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Canada Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Usher Syndromes / Deaf-Blind Disorders Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Canada Country of publication: United kingdom