Ophthalmic Genetics
Latest Publications

TOTAL DOCUMENTS

1646
(FIVE YEARS 384)

H-INDEX

33
(FIVE YEARS 4)

Published By Informa Uk (Taylor & Francis)

1744-5094, 1381-6810
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review

2022 ◽  
pp. 1-9
Author(s):  
Tomoyasu Kayazawa ◽  
Kazuki Kuniyoshi ◽  
Yoshikazu Hatsukawa ◽  
Kaoru Fujinami ◽  
Kazutoshi Yoshitake ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Course ◽  
Pathogenic Variant ◽  
Leber Congenital Amaurosis

Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome—exploration of association with PAX6 genotype

2022 ◽  
pp. 1-4
Author(s):  
Zheyuan Zong ◽  
Shirin Kalyan ◽  
Cameron Andres ◽  
Sueda Akkor ◽  
Jerilynn C. Prior ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Ovary Syndrome

Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis

2022 ◽  
pp. 1-8
Author(s):  
Juan-Juan Xie ◽  
Guo-Wei Zhang ◽  
Hai-Yue Cui ◽  
Na Li ◽  
Xing-Xing Liu ◽  
...  
Keyword(s):  
Systematic Review ◽  
Gene Mutation ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Meta Analysis ◽  
Open Angle

An extended phenotype of RP1L1 maculopathy – case report

2021 ◽  
pp. 1-8
Author(s):  
George J. Manayath ◽  
Mayur Rokdey ◽  
Shishir Verghese ◽  
Ratnesh Ranjan ◽  
V. R. Saravanan ◽  
...  
Keyword(s):  
Case Report ◽  
Extended Phenotype

OTX2 mutation associated with severe myopia in a Canadian family

2021 ◽  
pp. 1-3
Author(s):  
Snow Wangding ◽  
Samantha Colaiacovo ◽  
Inas Makar ◽  
Maha Saleh
Load More ...
Sign in / Sign up

Export Citation Format

Share Document