P01 HD052860-03S1/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

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2010	1
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2024	0

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Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

Mannini L, Liu J, Krantz ID, Musio A. Mannini L, et al. Hum Mutat. 2010 Jan;31(1):5-10. doi: 10.1002/humu.21129. Hum Mutat. 2010. PMID: 19842212 Free PMC article. Review.

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

Clark DM, Sherer I, Deardorff MA, Byrne JL, Loomes KM, Nowaczyk MJ, Jackson LG, Krantz ID. Clark DM, et al. Am J Med Genet A. 2012 Aug;158A(8):1848-56. doi: 10.1002/ajmg.a.35410. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740382 Free PMC article. Review.

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Schrier SA, Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG. Schrier SA, et al. Am J Med Genet A. 2011 Dec;155A(12):3007-24. doi: 10.1002/ajmg.a.34329. Epub 2011 Nov 8. Am J Med Genet A. 2011. PMID: 22069164 Free PMC article. Review.

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