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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Download from www.nature.comGermline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
Download from www.ncbi.nlm.nih.govMutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4
Download from doi.orgGermline gain-of-function mutations of ALK disrupt central nervous system development
Download from onlinelibrary.wiley.comDissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia
Download from www.nature.comGenetic Factors in Isolated and Syndromic Esophageal Atresia:
Download from pdfs.journals.lww.comPregnancy in women heterozygous for MCT8 mutations: Risk of maternal hypothyroxinemia and fetal care
Download from www.eje-online.orgMissing publications? Search for publications with a matching author name.