Work

RAI1 point mutations, CAG repeat variation, and SNP analysis in non‐deletion Smith–Magenis syndrome

Year: 2006

Type: article

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.31510

Authors: Weimin Bi, G. Mustafa Saifi, Santhosh Girirajan, Xin Shi, Barbara Szomju, Helen Firth, R. Ellen Magenis, Lorraine Potocki, Sarah H. Elsea, James R. Lupski

Institutions: Baylor College of Medicine, Virginia Commonwealth University, University of Cambridge, Addenbrooke's Hospital, Oregon Health & Science University, Texas Children's Hospital

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Center for Research Resources, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G4899153346, General Clinical Research Center, G71706220, G809414603, G8553732550, Molecular Analysis of del(17)(p11.2)

OpenAlex ID: W2008410628

FWCI: 3.037

Cites: 33

Cited by: 50

Related to: 10