OpenAlex
PricingAboutJobs
Log inGet started
Work

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

HTML

Year: 2012
Type: article
Study design: Observational Study
Source: Nature Genetics
DOI: 10.1038/ng.2262
Authors: David A Koolen, Jamie M Kramer, Kornelia Neveling, Willy M Nillesen, Heather L Moore-Barton, Frances V Elmslie, Annick Toutain, Jeanne Amiel, Valérie Malan, Anne Chun-Hui Tsai, Sau Wai Cheung, Christian Gilissen, Eugene T P Verwiel, Sarah Martens, Ton Feuth, Ernie M H F Bongers, Petra de Vries, Hans Scheffer, Lisenka E L M Vissers, Arjan P M de Brouwer, Han G Brunner, Joris A Veltman, Annette Schenck, Helger G Yntema, Bert B A de Vries
Institutions: Radboud University Nijmegen, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, St George's, University of London, Centre Hospitalier Universitaire de Tours, Hôpital Bretonneau, Hôpital Necker-Enfants Malades, Inserm, Sorbonne Paris Cité, Institut des Maladies Génétiques Imagine, Université Paris Descartes, Children's Hospital Colorado, University of Colorado Denver, Baylor College of Medicine
Language: English

Topic: Genomic variations and chromosomal abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W2058601962
FWCI: 9.831
Cites: 14
Cited by: 234
Related to: 10
OpenAlex
Nonprofit
Open DataOpen Data
Open Source
Product
Search
Compare
Pricing
Repositories
Unpaywall
Unsub
Developers
API docs
Data snapshot
Status
Source code
Organization
About
Team
Testimonials
Brand
Jobs
Community
Help center
Contact
Events
Blog
Mailing list
Supporters
Legal
Privacy
Accessibility
Terms