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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 1 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 6 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 1 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 3 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 7 2021-12-23
PubMed 28098423 Brain-derived neurotrophic factor attenuates doxorubicin-induced cardiac dysfunction through activat 1.68 KB 2017-08-30 16 5 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 1 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 2 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 5 2021-12-23
PubMed 17000021 No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 2.11 KB 2015-11-23 14 0 2021-12-23