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Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
Download from www.ncbi.nlm.nih.govRecurrent Williams-Beuren Syndrome in a Sibship Suggestive of Maternal Germ-Line Mosaicism
Download from www.ncbi.nlm.nih.govTricuspid atresia and conotruncal malformations in five families
Download from www.ncbi.nlm.nih.govExpression of theRET proto-oncogene in human Embryos
Download from www.researchgate.netCHARGE syndrome: Report of 47 cases and review
UploadMutations of the RET-GDNF Signaling Pathway in Ondine's Curse
Download from www.ncbi.nlm.nih.govSOX10 mutations in patients with Waardenburg-Hirschsprung disease
Download from www.nature.comFeatures of DiGeorge syndrome and CHARGE association in five patients.
Download from jmg.bmj.comEndothelin-3 gene mutations in isolated and syndromic Hirschsprung disease
UploadGermline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease
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