日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

巴基斯坦近亲结婚家族中发现与HSF4基因相关的常染色体隐性遗传性先天性白内障

Xiaodong Jiao ,Shahid Y Khan ,Haiba Kaul ,Tariq Butt ,Muhammad Asif Naeem ,Sheikh Riazuddin ,J Fielding Hejtmancik ,S Amer Riazuddin

A mutation in IFT43 causes non-syndromic recessive retinal degeneration

IFT43 基因突变导致无综合征隐性视网膜变性

Pooja Biswas, Jacque L Duncan, Muhammad Ali, Hiroko Matsui, Muhammad Asif Naeem, Pongali B Raghavendra, Kelly A Frazer, Heleen H Arts, Sheikh Riazuddin, Javed Akram, J Fielding Hejtmancik, S Amer Riazuddin, Radha Ayyagari

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration

ASRGL1 错义突变与常染色体隐性视网膜变性有关

Pooja Biswas, Venkata Ramana Murthy Chavali, Giulia Agnello, Everett Stone, Christina Chakarova, Jacque L Duncan, Chitra Kannabiran, Melissa Homsher, Shomi S Bhattacharya, Muhammad Asif Naeem, Adva Kimchi, Dror Sharon, Takeshi Iwata, Shaikh Riazuddin, G Bhanuprakash Reddy, J Fielding Hejtmancik, Geo

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

Perrault 综合征是由 CLPP 的隐性突变引起的,该基因编码一种线粒体 ATP 依赖性腔内蛋白酶

Emma M Jenkinson, Atteeq U Rehman, Tom Walsh, Jill Clayton-Smith, Kwanghyuk Lee, Robert J Morell, Meghan C Drummond, Shaheen N Khan, Muhammad Asif Naeem, Bushra Rauf, Neil Billington, Julie M Schultz, Jill E Urquhart, Ming K Lee, Andrew Berry, Neil A Hanley, Sarju Mehta, Deirdre Cilliers, Peter E Cl