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Scientific Reports|June 14, 2020
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype AssociationYu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, et al.Translational Vision Science & Technology|August 22, 2020
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal DisorderXiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, et al.Scientific Reports|March 29, 2020
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele FrequencyLizhu Yang, Kaoru Fujinami, Shinji Ueno, et al.American Journal of Ophthalmology|July 25, 2020
Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, et al.American Journal of Human Genetics|March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesMingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.Pageof 9