Ciliopathies: Coloring outside of the lines

Author:

Strong Alanna12ORCID,Li Dong2,Mentch Frank2,Bedoukian Emma3ORCID,Hartung Erum A.45,Meyers Kevin45,Skraban Cara14ORCID,Wen Jessica67,Medne Livija13,Glessner Joseph2,Watson Deborah24,Krantz Ian34,Hakonarson Hakon1248ORCID

Affiliation:

1. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. The Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Roberts Individualized Medical Genetics Center Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

4. Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

5. Division of Nephrology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

6. Division of Gastroenterology, Hepatology and Nutrition Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

7. Division of Gastroenterology, Hepatology and Nutrition University of Pennsylvania Philadelphia Pennsylvania USA

8. Division of Pulmonary Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. A case series of Bardet-Biedl Syndrome in a large Turkish family and review of the literature

2. Joubert Syndrome with Orofacial Digital Features

3. Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome

4. Ciliopathies

5. Hydrometrocolpos and polydactyly: A common neonatal presentation of Bardet‐Biedl and McKusick‐Kaufman syndromes;David A.;Journal of Medical Genetics,1999

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