Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
2R01HD026202-06A2
Application #
2199872
Study Section
Special Emphasis Panel (ZRG2-BEM (03))
Project Start
1990-07-01
Project End
2001-03-31
Budget Start
1996-04-16
Budget End
1997-03-31
Support Year
6
Fiscal Year
1996
Total Cost
Indirect Cost
Name
University of Miami School of Medicine
Department
Pediatrics
Type
Schools of Medicine
DUNS #
City
Miami
State
FL
Country
United States
Zip Code
33146
Friez, Michael J; Brooks, Susan Sklower; Stevenson, Roger E et al. (2016) HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. BMJ Open 6:e009537
Basehore, M J; Michaelson-Cohen, R; Levy-Lahad, E et al. (2015) Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). Clin Genet 87:461-6
Castillo, Angela; Kramer, Nancy; Schwartz, Charles E et al. (2014) 19q13.32 microdeletion syndrome: three new cases. Eur J Med Genet 57:654-8
Homan, Claire C; Kumar, Raman; Nguyen, Lam Son et al. (2014) Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. Am J Hum Genet 94:470-8
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Simensen, R J; Rogers, R C; Collins, J S et al. (2012) Short-term memory deficits in carrier females with KDM5C mutations. Genet Couns 23:31-40

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