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

Identification and analyses of exonic and copy number variants in spastic paraplegia

痉挛性截瘫中外显子和拷贝数变异的鉴定和分析

Shafique, Anum; Nadeem, Ayesha; Aslam, Faiza; Manzoor, Humera; Noman, Muhammad; Wohler, Elizabeth; Witmer, P Dane; Sobreira, Nara; Naz, Sadaf

A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.

DCAF13 的一个双等位基因变异与人类的神经肌肉疾病有关

Manzoor Humera, Zahid Hafsa, Emerling Christopher A, Kumar Kishore R, Hussain Hafiz Muhammad Jafar, Seo Go Hun, Wajid Muhammad, Naz Sadaf

A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1

一种新型APTX变异体和伴有眼动失用症1型的共济失调

Manzoor, Humera; Bukhari, Ihtisham; Wajid, Muhammad; Zhang, Yuanwei; Zhang, Huan; Brüggemann, Norbert; Klein, Christine; Shi, Qinghua; Naz, Sadaf