PubCasesCollection  

Documents (1,075,899) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 838694 Structural analysis of nine oligosaccharides isolated from the urine of a blood group O, nonsecretor 1.49 KB 2018-12-27 36 0
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PubMed 25054547 Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activi 1.95 KB 2016-01-19 36 0
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PubMed 8737255 Blood group glycosphingolipid expression in kidney of an individual with the rare blood group A1 Le( 1.45 KB 2019-05-30 35 0
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PubMed 7496144 Characterization of four monosialo and a novel disialo Asn N-glycosides from the urine of a patient 1 KB 2019-05-30 35 0
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PubMed 838696 Quantitation of some urinary oligosaccharides during pregnancy and lactation. The excretion rates of 1.71 KB 2015-12-04 35 0
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PubMed 21325775 A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprote 1.68 KB 2015-11-26 35 0
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PubMed 20846357 A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features o 1.9 KB 2015-11-25 35 0
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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 0
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PubMed 21903317 Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, 1.65 KB 2015-11-26 35 0
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PubMed 8486665 Deficient expression of decorin in infantile progeroid patients. Fibroblasts from young patients exh 1.97 KB 2017-09-04 34 0
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