Documents (345,060) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	2760209	Molecular analysis of a female Lesch-Nyhan patient. We report the identification of a female patient	1.45 KB	2015-12-03	15	0	-
PubMed	1999552	Hereditary deficiency of C5 in association with discoid lupus erythematosus. A 29-year-old woman wit	405 Bytes	2015-12-07	14	0	-
PubMed	1684569	Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WA	1.14 KB	2017-09-11	19	0	-
PubMed	3718019	Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythem	634 Bytes	2015-03-12	15	0	-
PubMed	2963536	Inherited C3 deficiency with recurrent infections and glomerulonephritis. A 10-year-old Laotian boy	1.03 KB	2015-03-12	15	3	-
PubMed	7586656	Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a	550 Bytes	2015-11-27	15	0	-
PubMed	9463314	ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of m	1.35 KB	2015-11-27	33	2	-
PubMed	1353340	Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all	716 Bytes	2015-11-18	42	0	-
PubMed	9790667	A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splici	1.58 KB	2015-11-27	32	0	-
PubMed	9427148	Aspartylglucosaminuria among Palestinian Arabs. Aspartylglucosaminuria (AGU) is a rare disorder of g	843 Bytes	2015-11-27	32	2	-