Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	9733027	Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expa	959 Bytes	2015-11-27	25	2	-
PubMed	9744473	The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. Deficiency of ary	749 Bytes	2015-11-27	25	6	-
PubMed	9770531	Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type	1.34 KB	2015-11-27	30	7	-
PubMed	9771706	A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atro	789 Bytes	2015-03-12	23	10	-
PubMed	9774970	Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and	872 Bytes	2015-11-27	24	4	-
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	4	-
PubMed	9792409	ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. Germline	1.54 KB	2015-03-12	24	8	-
PubMed	9792860	Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal r	1.12 KB	2015-11-27	25	4	-
PubMed	9792861	Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. We have ide	1.46 KB	2015-11-27	24	4	-
PubMed	9800909	Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dy	1.24 KB	2015-11-27	25	7	-