Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	9467011	Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, tw	2.77 KB	2015-11-27	25	29	-
PubMed	9472666	Molecular defects leading to human complement component C6 deficiency in an African-American family.	1.01 KB	2015-03-12	30	8	-
PubMed	9482572	PAX6 mutations reviewed. Mutations in PAX6 are responsible for human aniridia and have also been fou	1.07 KB	2015-11-27	25	6	-
PubMed	9497246	Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families	1.95 KB	2015-11-27	24	12	-
PubMed	9506545	Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. W	1.26 KB	2015-11-27	25	16	-
PubMed	9521325	Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Ventricular fibrillat	1.23 KB	2015-11-27	25	9	-
PubMed	9521421	Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel m	1.96 KB	2015-03-12	25	6	-
PubMed	9529364	Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosi	1.7 KB	2015-03-12	23	17	-
PubMed	9536083	The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limi	1.57 KB	2015-11-27	24	4	-
PubMed	9546397	Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with tr	900 Bytes	2015-03-12	35	2	-