Partial Xp11.23–p11.4 duplication with random X inactivation: Clinical report and molecular cytogenetic characterization
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference24 articles.
1. A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58
2. Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies
3. Xp-duplications with and without sex reversal
4. Pure de-novo 5 Mb duplication at Xp11.22–p11.23 in a male: phenotypic and molecular characterization
Cited by 13 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. Multiplex Proteomic Evaluation in Inborn Errors with Deregulated IgE Response;Biomedicines;2023-01-13
2. Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation;Frontiers in Genetics;2021-04-14
3. Discovering a familial Xp11.4 microduplication: Does the mother matter?;Meta Gene;2018-06
4. Duplication Xp11.22-p14 in females: Does X-inactivation help in assessing their significance?;American Journal of Medical Genetics Part A;2015-02-18
5. Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure;Gene;2014-01
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
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3