Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	8644702	Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Nine different	1.86 KB	2015-11-27	27	13	-
PubMed	8644703	Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis	925 Bytes	2015-11-27	25	4	-
PubMed	8649785	A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Frau	964 Bytes	2015-11-27	26	7	-
PubMed	8651278	The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. We have searched for germ-line	1.38 KB	2015-12-05	24	3	-
PubMed	8659522	Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gen	1.86 KB	2015-11-27	33	9	-
PubMed	8659549	Identification and expression of eight novel mutations among non-Jewish patients with Canavan diseas	1.77 KB	2015-11-27	27	7	-
PubMed	8661102	Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia g	679 Bytes	2015-11-27	26	3	-
PubMed	8666397	The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps n	1.22 KB	2015-11-27	26	5	-
PubMed	8670333	Colchicine in breast milk of patients with familial Mediterranean fever. OBJECTIVE: To clarify wheth	1.26 KB	2015-03-12	23	5	-
PubMed	8673131	Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Myotonic dystr	973 Bytes	2015-11-27	26	11	-