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

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

具有新型 MYLK 基因突变的大家族中发生致命性胸主动脉瘤和夹层:临床表型的描述

Adel Shalata, Mohammad Mahroom, Dianna M Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod, William Nseir

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

Vps37A 的创始突变导致常染色体隐性复杂遗传性痉挛性截瘫

Yifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, David Savitzki, Yishay Shoval, Assnat Bloom, Raya Rod, Morad Khayat, Bella Gross, Walid Samri, Hector Cohen, Vadim Sonkin, Tatiana Freidman, Dan Geiger, Aviva Fattal-Valevski, Yair Anikster, Aoife M Waters, Robert Kleta, Tzipora C Falik-Zaccai