Mutations inPOLR3AandPOLR3Bare a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Mutations inPOLR3AandPOLR3Bare a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Published:2013-01-25 Issue:3 Volume:50 Page:194-197
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Daoud Hussein,Tétreault Martine,Gibson William,Guerrero Kether,Cohen Ana,Gburek-Augustat Janina,Synofzik Matthis,Brais Bernard,Stevens Cathy A,Sanchez-Carpintero Rocio,Goizet Cyril,Naidu Sakkubai,Vanderver Adeline,Bernard Geneviève

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 89 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. POLR3A‐related disorders: From spastic ataxia to generalised dystonia and long‐term efficacy of deep brain stimulation;Annals of Clinical and Translational Neurology;2024-05-03

2. Role of epigenetics and alterations in RNA metabolism in leukodystrophies;WIREs RNA;2024-05

4. The Genetic Basis of the First Patient with Wiedemann–Rautenstrauch Syndrome in the Russian Federation;Genes;2024-01-29

5. Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy;Human Mutation;2024-01

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP