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

Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

EFCAB7基因变异是导致非综合征性轴后多指畸形的原因。

Bilal, Muhammad; Khan, Hammal; Khan, Muhammad Javed; Haack, Tobias B; Buchert, Rebecca; Liaqat, Khurram; Ullah, Kifayat; Ahmed, Sohail; Bharadwaj, Thashi; Acharya, Anushree; Peralta, Susana; Najumuddin; Ali, Hamid; Hasni, Muhammad Sharif; Schrauwen, Isabelle; Ullah, Asmat; Ahmad, Wasim; Leal, Suzanne M

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families

全外显子组测序在CNTN2、CARS2、ARSA和CLCN4基因中发现了五个新的变异,这些变异会导致近亲结婚家族成员患癫痫。

Abdulkareem, Angham Abdulrhman; Zaman, Qaiser; Khan, Hamza; Khan, Sabar; Rehman, Gauhar; Tariq, Nabeel; Ahmad, Mashal; Owais, Muhammad; Najumuddin; Muthaffar, Osama Yousef; Bibi, Fehmida; Khang, Rin; Ryu, Seung Woo; Naseer, Muhammad Imran; Jelani, Musharraf

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases

MPV17、PRX、GJB1 和 SACS 中的新变异可导致夏科-马里-图斯病和夏洛瓦-萨格奈型痉挛性共济失调症

Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar, Gauhar Rehman, Hamza Khan, Mehwish Rehman, Najumuddin, Ilyas Ahmad, Muhmmad Tariq, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Muhammad Imran Naseer, Muhammad Shah Faisal, Naveed Wasif, Musharraf Jelani

Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia

病例报告:TBX2 DNA结合域中一种新的从头功能缺失变异导致严重的骨软骨发育不良

Rafeeq, Misbahuddin M; Murad, Hussam Aly Sayed; Najumuddin; Ullah, Samee; Ahmed, Zaheer; Alam, Qamre; Bilal, Muhammad; Habib, Alaa Hamed; Sain, Ziaullah M; Khan, Muhammad Jawad; Umair, Muhammad