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Journal of Medical Genetics|October 9, 2014
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epitheliumAjoy Vincent, Nicole Forster, Jason T Maynes, et al.Translational Vision Science & Technology|February 4, 2022
Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1Mariana Flores Pimentel, Anna Heath, Michael J Wan, et al.European Journal of Human Genetics : EJHG|February 5, 2015
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEva Lenassi, Ajoy Vincent, Zheng Li, et al.Human Molecular Genetics|April 24, 2025
Defective IFT57 underlies a novel cause of Bardet-Biedl syndromeAlexandra Nitoiu, Qihong Zhang, Erika Tavares, et al.American Journal of Human Genetics|April 12, 2016
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night BlindnessAjoy Vincent, Isabelle Audo, Erika Tavares, et al.Journal of Neurology|February 20, 2022
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stageAlessandro Orsini, Daniele Ferrari, Antonella Riva, et al.Investigative Ophthalmology & Visual Science|December 22, 2023
Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5Randa T H Li, Alejandro J Roman, Alexander Sumaroka, et al.NPJ Genomic Medicine|March 28, 2026
A novel phenotype-guided genome analysis pipeline for variant discoveryLayla Ahmed, Erika Tavares, Janice Min Li, et al.Clinical Genetics|August 2, 2022
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosaAnna Dvaladze, Erika Tavares, Matteo Di Scipio, et al.Investigative Ophthalmology & Visual Science|June 26, 2019
Characterization of Retinal Structure in ATF6-Associated AchromatopsiaRebecca R Mastey, Michalis Georgiou, Christopher S Langlo, et al.Pageof 9