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2011 | 1 |
2013 | 2 |
2025 | 0 |
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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20152-7. doi: 10.1073/pnas.1311381110. Epub 2013 Nov 20.
Proc Natl Acad Sci U S A. 2013.
PMID: 24259709
Free PMC article.
Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome.
Wright EB, Donnai D, Johnson D, Clayton-Smith J.
Wright EB, et al.
Clin Dysmorphol. 2011 Jan;20(1):15-20. doi: 10.1097/MCD.0b013e32833e8f1e.
Clin Dysmorphol. 2011.
PMID: 21084979
Free PMC article.
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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
Burkitt Wright EM, Sach E, Sharif S, Quarrell O, Carroll T, Whitehouse RW, Upadhyaya M, Huson SM, Evans DG.
Burkitt Wright EM, et al.
J Med Genet. 2013 Sep;50(9):606-13. doi: 10.1136/jmedgenet-2013-101648. Epub 2013 Jun 28.
J Med Genet. 2013.
PMID: 23812910
Free PMC article.
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