LitCoin-Disease-MeSH  

Documents (400) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 21325775 A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprote 1.68 KB 2015-11-26 35 10 2021-12-22
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 2 2021-12-22
PubMed 15609295 Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in t 1.39 KB 2015-11-18 34 7 2021-12-22
PubMed 27090298 Circulating Fatty Acid Synthase in pregnant women: Relationship to blood pressure, maternal metaboli 1.5 KB 2017-09-04 34 3 2021-12-22
PubMed 16781314 Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in t 1.02 KB 2015-11-19 34 4 2021-12-22
PubMed 25979836 Gastrointestinal hormones/neurotransmitters and growth factors can activate P21 activated kinase 2 i 2.1 KB 2016-01-23 34 7 2021-12-22
PubMed 20801540 Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel g 1.84 KB 2015-11-25 34 16 2021-12-22
PubMed 17951029 Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. BACKGROU 1.48 KB 2015-11-23 34 12 2021-12-22
PubMed 17910065 A novel missense mutation in the paired domain of human PAX9 causes oligodontia. PAX9 and MSX1 are t 1.13 KB 2015-11-23 34 1 2021-12-22
PubMed 15485686 A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tac 1.77 KB 2015-11-19 34 14 2021-12-22