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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 27, 2020
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1Xiao Liu, Xiaohong Meng, Lizhu Yang, et al.Journal of Ophthalmology|May 17, 2019
Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning TechniquesYu Fujinami-Yokokawa, Nikolas Pontikos, Lizhu Yang, et al.The American Journal of Pathology|November 30, 2005
Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJDManuela Pastore, Steven S Chin, Karen L Bell, et al.The British Journal of Ophthalmology|April 21, 2021
Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniquesYu Fujinami-Yokokawa, Hideki Ninomiya, Xiao Liu, et al.Ophthalmic Genetics|December 29, 2020
Long-term follow-up of a Chinese patient with KCNV2-retinopathyHongxuan Lie, Gang Wang, Xiao Liu, et al.Human Genetics|July 29, 2015
Mutations in human IFT140 cause non-syndromic retinal degenerationMingchu Xu, Lizhu Yang, Feng Wang, et al.Retina (Philadelphia, Pa.)|August 23, 2018
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHYXuan Zou, Qing Fu, Sha Fang, et al.Scientific Reports|August 3, 2017
The phenotypic variability of HK1-associated retinal dystrophyZhisheng Yuan, Baiyu Li, Mingchu Xu, et al.Scientific Reports|November 16, 2019
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophiesKei Mizobuchi, Takaaki Hayashi, Satoshi Katagiri, et al.Journal of Medical Genetics|September 16, 2016
CEP78 is mutated in a distinct type of Usher syndromeQing Fu, Mingchu Xu, Xue Chen, et al.Pageof 9