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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 hal.archives-ouvertes.frDissection 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.