Work

Alpha‐thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation – c. 109C >T (p. R37X )

Year: 2014

Type: article

Source: Clinical Genetics

DOI: 10.1111/cge.12420

Authors: M.J. Basehore, R. Michaelson‐Cohen, E. Levy‐Lahad, C. Sismani, L.M. Bird, M.J. Friez, T. Walsh, F. Abidi, L. Holloway, C. Skinner, S. McGee, A. Alexandrou, M. Syrrou, P.C. Patsalis, G. Raymond, T. Wang, C.E. Schwartz, M.‐C. King, R.E. Stevenson

Institutions: Greenwood Genetic Center, Shaare Zedek Medical Center, Bikur Cholim Hospital, Cyprus Institute of Neurology and Genetics, University of California San Diego, University of Washington, University of Washington Medical Center, University of Ioannina, Kennedy Krieger Institute, Johns Hopkins University

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: Duke Endowment, Greenwood Genetic Center Foundation, National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G1860905272, G194938417, G2304530949, X-Linked Mental Retardation-Linkage, Identification of Novel X-linked Intellectual Disability Genes

OpenAlex ID: W1750886566

FWCI: 0.873

Cites: 13

Cited by: 16

Related to: 10