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Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano, Riccardo; Deitch, Iris; Peter, Virginie G; Ba-Abbad, Rola; Place, Emily M; Zampaglione, Erin; Wagner, Naomi E; Fulton, Anne B; Coutinho-Santos, Luisa; Rosin, Boris; Dunet, Vincent; AlTalbishi, Ala'a; Banin, Eyal; Sousa, Ana Berta; Neves, Mariana; Larson, Anna; Quinodoz, Mathieu; Michaelides, Michel; Ben-Yosef, Tamar; Pierce, Eric A; Rivolta, Carlo; Webster, Andrew R; Arno, Gavin; Sharon, Dror; Huckfeldt, Rachel M; Bujakowska, Kinga M.
Afiliação
  • Sangermano R; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Deitch I; Retina Service, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
  • Peter VG; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Ba-Abbad R; Department of Ophthalmology, University of Basel, Basel, Switzerland.
  • Place EM; Experimental Pathology, Institute of Pathology, Lausanne University Hospital, Lausanne, Switzerland.
  • Zampaglione E; Genetics Service, Moorfields Eye Hospital, London, UK.
  • Wagner NE; UCL Institute of Ophthalmology, University College London, London, UK.
  • Fulton AB; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Coutinho-Santos L; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Rosin B; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Dunet V; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • AlTalbishi A; Department of Ophthalmology, Instituto de Oftalmologia Dr. Gama Pinto, Lisbon, Portugal.
  • Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Sousa AB; Department of Diagnostic and Interventional Radiology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Neves M; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Larson A; St. John Eye Hospital, Jerusalem, Israel.
  • Quinodoz M; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Michaelides M; Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML), Lisbon, Portugal.
  • Ben-Yosef T; Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML), Lisbon, Portugal.
  • Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Webster AR; Department of Ophthalmology, University of Basel, Basel, Switzerland.
  • Arno G; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
  • Sharon D; Genetics Service, Moorfields Eye Hospital, London, UK.
  • Huckfeldt RM; UCL Institute of Ophthalmology, University College London, London, UK.
  • Bujakowska KM; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
NPJ Genom Med ; 6(1): 53, 2021 Jun 29.
Article em En | MEDLINE | ID: mdl-34188062
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: NPJ Genom Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: NPJ Genom Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos