Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information-Reference-Cited by-同舟云学术

Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information

Published:2021-01-13 Issue:4 Volume:185 Page:1039-1046
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Dingemans Alexander J. M.¹^ORCID,Stremmelaar Diante E.¹,Vissers Lisenka E. L. M.¹,Jansen Sandra¹^ORCID,Nabais Sá Maria J.¹,Remortele Angela¹,Jonis Noraly¹,Truijen Kim¹,van de Ven Sam¹,Ewals Jeroen¹,Verbruggen Michel¹,Koolen David A.¹,Brunner Han G.¹,Eichler Evan E.²³,Gecz Jozef⁴,Vries Bert B. A.¹^ORCID

Affiliation:

1. Department of Human Genetics Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center Nijmegen The Netherlands

2. Department of Genome Sciences University of Washington School of Medicine Seattle Washington USA

3. Howard Hughes Medical Institute University of Washington Seattle Washington USA

4. Adelaide Medical School and the Robinson Research Institute University of Adelaide Adelaide South Australia Australia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62057

Reference41 articles.

1. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

2. An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs

3. Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review

4. Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

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