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PubMed 24632946 Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malfor 2.11 KB 2019-09-23 56 36 2021-12-26
PubMed 16046395 Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a prima 1.52 KB 2015-11-19 47 30 2021-12-26
PubMed 28584052 Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disab 1.87 KB 2018-12-27 43 35 2021-12-26
PubMed 15184369 Ca2+ dependence of the Ca2+-selective TRPV6 channel. Microfluorimetry and patch-clamp experiments we 1.96 KB 2015-11-22 41 33 2021-12-26
PubMed 18470323 Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) g 2.08 KB 2015-11-24 38 23 2021-12-26
PubMed 17059986 A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial h 1.74 KB 2015-11-23 36 38 2021-12-26
PubMed 25054547 Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activi 1.95 KB 2016-01-19 36 42 2021-12-26
PubMed 1353340 Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all 716 Bytes 2015-11-18 36 17 2021-12-26
PubMed 20143913 Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopo 1.09 KB 2015-11-25 35 19 2021-12-26
PubMed 21325775 A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprote 1.68 KB 2015-11-26 35 44 2021-12-26