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Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	15041272	A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. Clinical, l	1.53 KB	2015-11-18	19	27	2021-12-23
PubMed	17273972	Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 dele	1.11 KB	2015-11-23	19	13	2021-12-23
PubMed	17033974	Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy	1.16 KB	2015-11-23	19	26	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	17	18	2021-12-23
PubMed	25305591	VPAC2 (vasoactive intestinal peptide receptor type 2) receptor deficient mice develop exacerbated ex	1.73 KB	2016-01-19	17	42	2021-12-23
PubMed	28098423	Brain-derived neurotrophic factor attenuates doxorubicin-induced cardiac dysfunction through activat	1.68 KB	2017-08-30	16	51	2021-12-23
PubMed	16321363	Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation. We describ	925 Bytes	2015-11-23	16	13	2021-12-23
PubMed	21496008	Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene. ARX	1.68 KB	2015-11-26	16	24	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	15	31	2021-12-23
PubMed	22729903	Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Pol	1.54 KB	2015-11-26	14	30	2021-12-23