Documents (939,769) JSON TSV

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	58	0	-
PubMed	19451548	Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. We	1.47 KB	2019-05-30	56	4	-
PubMed	16311883	Serum hyaluronidase aberrations in metabolic and morphogenetic disorders. Hyaluronidases are endo-gl	2.08 KB	2019-05-30	42	2	-
PubMed	1353340	Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all	716 Bytes	2015-11-18	42	2	-
PubMed	1596919	Proteoglycans in human burn hypertrophic scar from a patient with Ehlers-Danlos syndrome. Proteoglyc	993 Bytes	2015-11-22	39	2	-
PubMed	1709636	A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant o	1.05 KB	2017-09-11	38	0	-
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	4	-
PubMed	25054547	Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activi	1.95 KB	2016-01-19	36	2	-
PubMed	17059986	A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial h	1.74 KB	2015-11-23	36	8	-
PubMed	132969	Glycosaminoglycans and proteoglycans of human chondrosarcoma. The glycosaminoglycans and proteoglyca	1.01 KB	2015-03-12	35	2	-