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Journal of Pediatric Ophthalmology and Strabismus|July 9, 2019
Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-upMustafa Safi, Salimeh Khazaei Nejad, Mary O'Hara, et al.Annals of Paediatric Rheumatology|May 20, 2014
Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos SyndromeAllison Buterbaugh, Henry J Mroczkowski, Suma P Shankar, et al.Retinal Cases & Brief Reports|November 20, 2015
MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATIONJoshua D Levinson, Jiong Yan, Scott R Lambert, et al.BMJ Case Reports|July 26, 2022
Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosomeNattaporn Tassanakijpanich, Rachel Wright, Flora Tassone, et al.American Journal of Medical Genetics. Part A|July 29, 2018
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndromeArunkanth Ankala, Nieraj Jain, Baker Hubbard, et al.Ophthalmic Genetics|January 12, 2021
The evolving role of genetics in ophthalmologyNatario L Couser, Brian P Brooks, Arlene V Drack, et al.American Journal of Ophthalmology Case Reports|June 27, 2022
Retinal dystrophies: A look beyond the eyesVincent Duong Tang, Alena Egense, Glenn Yiu, et al.Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|March 16, 2010
Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the probandPhoebe Lin, Suma P Shankar, Jacque Duncan, et al.Ophthalmic Genetics|August 19, 2017
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 geneJason H Peragallo, Stephanie Keller, Marjo S van der Knaap, et al.The Application of Clinical Genetics|April 13, 2023
Prader-Willi and Angelman Syndromes: Mechanisms and ManagementVan K Ma, Rong Mao, Jessica N Toth, et al.Pageof 5