Work

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

Year: 2014

Type: article

Study design: Observational Study

Source: Human Genetics

DOI: 10.1007/s00439-014-1423-7

Authors: Sara M. Sarasua, Luigi Boccuto, Julia L. Sharp, Alka Dwivedi, Chin-Fu Chen, Jonathan D. Rollins, R. Curtis Rogers, Katy Phelan, Barbara R. DuPont

Institutions: Greenwood Genetic Center, Clemson University, Tulane University

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: W1988158595

FWCI: 5.938

Cites: 46

Cited by: 203

Related to: 9