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

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.

MARVELD2 的分子遗传学和巴基斯坦和斯洛伐克家族中 DFNB49 听力损失的临床表型

Nayak Gowri, Varga Lukas, Trincot Claire, Shahzad Mohsin, Friedman Penelope L, Klimes Iwar, Greinwald John H Jr, Riazuddin S Amer, Masindova Ivica, Profant Milan, Khan Shaheen N, Friedman Thomas B, Ahmed Zubair M, Gasperikova Daniela, Riazuddin Sheikh, Riazuddin Saima

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86

与癫痫相关的基因TBC1D24的突变也会导致非综合征性耳聋DFNB86。

Rehman, Atteeq U; Santos-Cortez, Regie Lyn P; Morell, Robert J; Drummond, Meghan C; Ito, Taku; Lee, Kwanghyuk; Khan, Asma A; Basra, Muhammad Asim R; Wasif, Naveed; Ayub, Muhammad; Ali, Rana A; Raza, Syed I; Nickerson, Deborah A; Shendure, Jay; Bamshad, Michael; Riazuddin, Saima; Billington, Neil; Khan, Shaheen N; Friedman, Penelope L; Griffith, Andrew J; Ahmad, Wasim; Riazuddin, Sheikh; Leal, Suzanne M; Friedman, Thomas B

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome

DFNB73 的分子基础:BSND 基因突变可导致非综合征性耳聋或巴特综合征。

Riazuddin, Saima; Anwar, Saima; Fischer, Martin; Ahmed, Zubair M; Khan, Shahid Y; Janssen, Audrey G H; Zafar, Ahmad U; Scholl, Ute; Husnain, Tayyab; Belyantseva, Inna A; Friedman, Penelope L; Riazuddin, Sheikh; Friedman, Thomas B; Fahlke, Christoph

Tricellulin is a tight-junction protein necessary for hearing.

三细胞连接蛋白是一种紧密连接蛋白,对听力至关重要

Riazuddin Saima, Ahmed Zubair M, Fanning Alan S, Lagziel Ayala, Kitajiri Shin-ichiro, Ramzan Khushnooda, Khan Shaheen N, Chattaraj Parna, Friedman Penelope L, Anderson James M, Belyantseva Inna A, Forge Andrew, Riazuddin Sheikh, Friedman Thomas B