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Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Grudzinska Pechhacker, Monika K; Jacobson, Samuel G; Drack, Arlene V; Scipio, Matteo Di; Strubbe, Ine; Pfeifer, Wanda; Duncan, Jacque L; Dollfus, Helene; Goetz, Nathalie; Muller, Jean; Vincent, Andrea L; Aleman, Tomas S; Tumber, Anupreet; Van Cauwenbergh, Caroline; De Baere, Elfride; Bedoukian, Emma; Leroy, Bart P; Maynes, Jason T; Munier, Francis L; Tavares, Erika; Saleh, Eman; Vincent, Ajoy; Heon, Elise.
Affiliation
  • Grudzinska Pechhacker MK; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada.
  • Jacobson SG; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Canada.
  • Drack AV; Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
  • Scipio MD; Department of Ophthalmology, Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States.
  • Strubbe I; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
  • Pfeifer W; Department of Ophthalmology, Ghent University Hospital & Department of Head and Skin, Ghent University, Ghent, Belgium.
  • Duncan JL; Department of Ophthalmology, Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States.
  • Dollfus H; Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States.
  • Goetz N; CARGO ( Centre de référence pour les affections rares génétiques ), IGMA Institut de Génétqiue Médicale d'Alsace , Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Muller J; UMRS_1112, IGMA ( Institut de génétique Médicale d'Alsace ) Université de Strasbourg, Strasbourg, France.
  • Vincent AL; UMRS_1112, IGMA ( Institut de génétique Médicale d'Alsace ) Université de Strasbourg, Strasbourg, France.
  • Aleman TS; CARGO ( Centre de référence pour les affections rares génétiques ), IGMA Institut de Génétqiue Médicale d'Alsace , Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Tumber A; UMRS_1112, IGMA ( Institut de génétique Médicale d'Alsace ) Université de Strasbourg, Strasbourg, France.
  • Van Cauwenbergh C; Laboratoire de diagnostique génétique, IGMA ( Institut de génétique Médicale d'Alsace ) Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • De Baere E; Department of Ophthalmology, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.
  • Bedoukian E; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.
  • Leroy BP; Center for Advanced Retinal and Ocular Therapeutics, Perelman School of Medicine, Philadelphia, Pennsylvania, United States.
  • Maynes JT; Scheie Eye Institute at the Perelman Center for Advanced Medicine, Philadelphia, Pennsylvania, United States.
  • Munier FL; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.
  • Tavares E; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada.
  • Saleh E; Department of Ophthalmology, Ghent University Hospital & Department of Head and Skin, Ghent University, Ghent, Belgium.
  • Vincent A; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Heon E; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
Invest Ophthalmol Vis Sci ; 62(15): 26, 2021 12 01.
Article in En | MEDLINE | ID: mdl-34940782
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Visual Acuity / Chaperonins / Mutation, Missense / Retinal Dystrophies / Microtubule-Associated Proteins Type of study: Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Invest Ophthalmol Vis Sci Year: 2021 Document type: Article Affiliation country: Canadá
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Visual Acuity / Chaperonins / Mutation, Missense / Retinal Dystrophies / Microtubule-Associated Proteins Type of study: Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Invest Ophthalmol Vis Sci Year: 2021 Document type: Article Affiliation country: Canadá