Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	8944024	Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colou	1.02 KB	2015-03-12	46	3	2021-12-23
PubMed	20195852	Risk of nephropathy after consumption of nonionic contrast media by children undergoing cardiac angi	2.15 KB	2016-01-01	43	9	2021-12-23
PubMed	7811247	X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family prese	984 Bytes	2015-11-27	38	3	2021-12-23
PubMed	17033974	Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy	1.16 KB	2015-11-23	34	6	2021-12-23
PubMed	15041272	A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. Clinical, l	1.53 KB	2015-11-18	34	1	2021-12-23
PubMed	6086495	Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage t	765 Bytes	2015-11-28	33	0	2021-12-23
PubMed	14510914	Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. OBJECTIVE: I	1.88 KB	2015-11-18	30	5	2021-12-23
PubMed	16419642	A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives:	1.78 KB	2015-11-20	28	2	2021-12-23
PubMed	17962394	Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutat	1.3 KB	2015-11-23	28	0	2021-12-23
PubMed	21799811	Strong association of 677 C>T substitution in the MTHFR gene with male infertility--a study on an in	1.89 KB	2016-01-03	27	0	2021-12-23