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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt, Charlotte C; Gradstein, Libe; Bergen, Arthur A; Florijn, Ralph J; Arveiler, Benoit; Lasseaux, Eulalie; Zanlonghi, Xavier; Bagdonaite-Bejarano, Laura; Fulton, Anne B; Yahalom, Claudia; Blumenfeld, Anat; Perez, Yonatan; Birk, Ohad S; de Wit, Gerard C; Schalij-Delfos, Nicoline E; van Genderen, Maria M.
Afiliación
  • Kruijt CC; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.
  • Gradstein L; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
  • Bergen AA; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
  • Florijn RJ; Department of Human Genetics, Amsterdam University Medical Center, Location AMC, Amsterdam, The Netherlands.
  • Arveiler B; The Netherlands Institute for Neurosciences (NIN-KNAW), Amsterdam, The Netherlands.
  • Lasseaux E; Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands.
  • Zanlonghi X; Department of Human Genetics, Amsterdam University Medical Center, Location AMC, Amsterdam, The Netherlands.
  • Bagdonaite-Bejarano L; Maladies Rares: Génétique et Métabolisme (MRGM), Inserm U1211, University of Bordeaux, Bordeaux, France.
  • Fulton AB; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Yahalom C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
  • Blumenfeld A; Centre de Compétence Maladie Rares, Clinique Pluridisciplinaire Jules Verne, Nantes, France.
  • Perez Y; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.
  • Birk OS; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.
  • de Wit GC; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.
  • Schalij-Delfos NE; Faculty of Medicine, Hebrew University of Jerusalem, Israel; Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.
  • van Genderen MM; Faculty of Medicine, Hebrew University of Jerusalem, Israel; Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.
Invest Ophthalmol Vis Sci ; 63(1): 19, 2022 01 03.
Article en En | MEDLINE | ID: mdl-35029636
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN / Agudeza Visual / Albinismo Oculocutáneo / Sistemas de Transporte de Aminoácidos Neutros / Segmento Anterior del Ojo / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN / Agudeza Visual / Albinismo Oculocutáneo / Sistemas de Transporte de Aminoácidos Neutros / Segmento Anterior del Ojo / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos