Two is better than one: A case of homozygous myotonic dystrophy type 1-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Two is better than one: A case of homozygous myotonic dystrophy type 1

Published:2013-05-22 Issue:7 Volume:161 Page:1763-1767
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Carroll Jillian M.¹,Quaid Kimberly A.²,Stone Kristyne³,Jones Renee⁴,Schubert Frank³,Griffith Christopher B.²

Affiliation:

1. Indiana University Genetic Counseling Program; Indianapolis, Indiana

2. Department of Medical and Molecular Genetics; Indiana University School of Medicine; Indianapolis, Indiana

3. Department of Obstetrics and Gynecology; Indiana University School of Medicine; Indianapolis, Indiana

4. Ariosa Diagnostics; Indianapolis, Indiana

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35967/fullpdf

Reference14 articles.

1. Instability of a premutation allele in homozygous patients with myotonic dystrophy type I;Abbruzzese;Ann Neurol,2002

2. Molecular and clinical study of two myotonic dystrophy homozygotes;Akbas;J Med Genet,2001

3. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model;Berul;J Clin Invest,1998

4. Homozygous myotonic dystrophy with craniosynostosis;Cerghet;J Child Neurol,2008

Cited by 6 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. Estimating Demand for Germline Genome Editing: An In Vitro Fertilization Clinic Perspective;The CRISPR Journal;2019-10-01

2. Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon;CHILD NERV SYST;2016

3. Genome engineering through CRISPR/Cas9 technology in the human germline and pluripotent stem cells;Human Reproduction Update;2016-02-29

4. Compound heterozygous myotonic dystrophy type 1;American Journal of Medical Genetics Part A;2015-05-22

5. Myotone Dystrophien: Klinik, Pathogenese, Diagnostik und Therapie;Fortschritte der Neurologie · Psychiatrie;2015-01-20

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

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