Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia

Published:2013-01 Issue:1 Volume:22 Page:39-41
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Al-Hashmi Nadia,Imtiaz Faiqa,Ramzan Khushnooda,Faden Maha,Shuaib Taghreed,Al-Otaibi Lefian,Al-Hemidan Amal,Al-Owain Mohammed

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Cited by 8 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. Restoration of vision in kniest dysplasia patients characterized by retinal detachment with dialysis of the ora serrata;Indian Journal of Ophthalmology - Case Reports;2024-01

2. Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report;Medicine;2023-11-24

3. Gene polymorphisms in VEGFA and COL2A1 are associated with response to inhaled corticosteroids in children with asthma;Pharmacogenomics;2019-08

4. Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature;The Cleft Palate-Craniofacial Journal;2019-06-18

5. A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita;Genetic Testing and Molecular Biomarkers;2019-05

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