Showing results 1 to 4 of 4
Title | Author(s) | Issue Date | |
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Heterozygous NOTCH1 deletion associated with variable congenital heart defects Journal:Clinical Genetics | 2021 | ||
In-vitro treatment with pravastatin and dexamethasone normalizes abnormal deposition of elastic fibers in dermal fibroblasts derived from patients with Restrictive Dermopathy - Possible therapeutic implications Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010 | 2010 | ||
Restrictive dermopathy with massive thrombosis: a previously uncreognized finding Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 | ||
Situs inversus totalis in a fetus with a deletion at 7q36.2 detected on microarray analysis Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 |