Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	9385378	A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in muco	1.29 KB	2015-11-27	27	5	-
PubMed	9391879	Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. In this study	923 Bytes	2015-11-27	24	5	-
PubMed	9391889	Paternal transmission of congenital myotonic dystrophy. We report a rare case of paternally transmit	1.07 KB	2015-03-12	26	12	-
PubMed	9400934	The RB1 gene mutation in a child with ectopic intracranial retinoblastoma. The RB1 gene mutation was	770 Bytes	2015-11-28	32	7	-
PubMed	941901	Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme.	1.19 KB	2015-12-04	25	5	-
PubMed	9420335	The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development	1.01 KB	2015-03-12	24	4	-
PubMed	9425228	Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Fa	1.01 KB	2015-11-27	25	6	-
PubMed	9425239	Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy pati	1.5 KB	2015-11-28	25	7	-
PubMed	9427148	Aspartylglucosaminuria among Palestinian Arabs. Aspartylglucosaminuria (AGU) is a rare disorder of g	843 Bytes	2015-11-27	32	5	-
PubMed	9439660	Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G2 phase chromosomal r	1.3 KB	2015-11-27	25	8	-