PubCasesCollection  

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source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 1472759 Alterations of glycosphingolipid-based blood group antigen expression on erythrocytes and in plasma 1.53 KB 2019-05-30 62 0
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PubMed 8621452 Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gl 1.14 KB 2015-12-05 58 0
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PubMed 19451548 Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. We 1.47 KB 2019-05-30 57 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 51 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 51 0
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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 50 0
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PubMed 18046082 Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with l 1.6 KB 2015-11-23 50 0
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PubMed 17345627 Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossifi 1.4 KB 2017-09-11 49 0
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PubMed 24014394 A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, an 1.16 KB 2015-11-26 47 0
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PubMed 17297207 Quinine-induced arrhythmia in a patient with severe malaria. It was reported that there was a case o 1.92 KB 2015-12-28 47 0
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