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

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

双等位基因 TTC5 变异导致发育里程碑延迟和智力障碍

Arisha Rasheed #, Evren Gumus #, Maha Zaki #, Katherine Johnson, Humera Manzoor, Geneva LaForce, Danica Ross, Jennifer McEvoy-Venneri, Valentina Stanley, Sangmoon Lee, Abbir Virani, Tawfeg Ben-Omran, Joseph G Gleeson, Sadaf Naz #, Ashleigh Schaffer #1

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias

罕见 RAB12 变异的功能特征及其在音乐家和其他肌张力障碍中的作用

Eva Hebert, Friederike Borngräber, Alexander Schmidt, Aleksandar Rakovic, Ingrid Brænne, Anne Weissbach, Jennie Hampf, Eva-Juliane Vollstedt, Leopold Größer, Susen Schaake, Michaela Müller, Humera Manzoor, Hans-Christian Jabusch, Daniel Alvarez-Fischer, Meike Kasten, Vladimir S Kostic, Thomas Gasser