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Research 4 of 85

1. Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis Proceedings of the National Academy of Sciences of the United States of America · 2013 · 44 citations
2. A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis European Journal of Medical Genetics · 2011 · 5 citations
3. 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24 2017
4. Chronic Pancreatitis and Persistent Steatorrhea: What Is the Correct Dose of Enzymes? Clinical Gastroenterology and Hepatology · 2011 · 52 citations

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