Documents (787) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	8071955	Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with	1.41 KB	2015-03-12	7	7	-
PubMed	9800909	Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dy	1.24 KB	2015-11-27	25	12	-
PubMed	7951315	PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central ne	963 Bytes	2015-11-27	9	11	-
PubMed	7802009	Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne m	971 Bytes	2015-11-27	16	4	-
PubMed	10406661	Small deletions in the type II collagen triple helix produce kniest dysplasia. Kniest dysplasia is a	1.5 KB	2015-11-15	17	12	-
PubMed	7493024	Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a ge	974 Bytes	2015-11-27	8	5	-
PubMed	10747931	Transgenic mice expressing a truncated form of the high mobility group I-C protein develop adiposity	1.15 KB	2015-11-15	33	7	-
PubMed	8824873	Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice ex	1.33 KB	2015-11-27	24	11	-
PubMed	10699184	Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DM	1.65 KB	2015-11-15	11	7	-
PubMed	10094559	Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.	789 Bytes	2015-11-20	8	4	-