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

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

THUMPD1 双等位基因变异导致 tRNA 乙酰化丧失和综合征性神经发育障碍

Martin Broly, Bogdan V Polevoda, Kamel M Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, Declan O'Rourke, Julia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala, Fowzan S Alkuraya, Alberta Leon, Rosa L E van Loon, Alessandra Fer

Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

TP73 突变导致粘液纤毛清除功能受损和无脑畸形

Julia Wallmeier, Diana Bracht, Hessa S Alsaif, Gerard W Dougherty, Heike Olbrich, Sandra Cindric, Mark Dzietko, Christoph Heyer, Norbert Teig, Charlotte Thiels, Eissa Faqeih, Aqeela Al-Hashim, Sameena Khan, Ibrahim Mogarri, Mohammed Almannai, Wadha Al Otaibi, Fowzan S Alkuraya, Cordula Koerner-Rettb

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

基于细胞的 CAD 变异分析可识别可能从尿苷疗法中获益的个体

Francisco Del Caño-Ochoa #, Bobby G Ng #, Malak Abedalthagafi, Mohammed Almannai, Ronald D Cohn, Gregory Costain, Orly Elpeleg, Henry Houlden, Ehsan Ghayoor Karimiani, Pengfei Liu, M Chiara Manzini, Reza Maroofian, Michael Muriello, Ali Al-Otaibi, Hema Patel, Edvardson Shimon, V Reid Sutton, Mehran