Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	8954016	Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartom	2.01 KB	2015-11-27	33	23	-
PubMed	8636252	X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult mal	1.55 KB	2015-12-05	24	22	-
PubMed	9083764	Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. UNLABELLED: The Schwartz-Jampel syndrom	1.84 KB	2015-12-08	31	22	-
PubMed	8931695	Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Mutation	1.82 KB	2015-11-27	35	20	-
PubMed	8640236	Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Inherited mutant alleles of	1.47 KB	2015-11-27	26	18	-
PubMed	9012409	Molecular basis for Duarte and Los Angeles variant galactosemia. Human orythrocytes that are homozyg	1.97 KB	2015-11-27	27	15	-
PubMed	9145677	BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. BACKGROUND: To d	1.84 KB	2015-11-28	24	14	-
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	8929264	The DCC protein and prognosis in colorectal cancer. BACKGROUND: Allelic loss of chromosome 18q predi	1.5 KB	2015-12-06	24	13	-
PubMed	9056547	Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form o	1.07 KB	2015-12-08	31	12	-