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

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability

连锁智力障碍家族中基因组和基因表达分析揭示的不同类型的致病非编码变异

Michael J Field, Raman Kumar, Anna Hackett, Sayaka Kayumi, Cheryl A Shoubridge, Lisa J Ewans, Atma M Ivancevic, Tracy Dudding-Byth, Renée Carroll, Thessa Kroes, Alison E Gardner, Patricia Sullivan, Thuong T Ha, Charles E Schwartz, Mark J Cowley, Marcel E Dinger, Elizabeth E Palmer, Louise Christie, 

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

THOC2 突变提示 mRNA 输出通路与 X 连锁智力障碍有关

Raman Kumar, Mark A Corbett, Bregje W M van Bon, Joshua A Woenig, Lloyd Weir, Evelyn Douglas, Kathryn L Friend, Alison Gardner, Marie Shaw, Lachlan A Jolly, Chuan Tan, Matthew F Hunter, Anna Hackett, Michael Field, Elizabeth E Palmer, Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Co

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

智力低下男性患者的独特基因表达指纹反映了组蛋白去甲基化酶 KDM5C 的致病缺陷

Lars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, Andreas Tzschach, Astrid Nümann, Andreas R Janecke, Ralf Spörle, Sigmar Stricker, Martine Raynaud, John Nelson, Anna Hackett, Jean-Pierre Fryns, Jamel Chelly, Arjan Pm de Brouwer, Ben Hamel, Jozef Gecz, Hans-Hilger Ropers, Andreas W Kuss