Detalhe da pesquisa
1.
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Hum Genet
; 140(8): 1157-1168, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33959807
2.
Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus.
Circulation
; 136(5): 476-489, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28487391
3.
Stimulators of the soluble guanylyl cyclase: promising functional insights from rare coding atherosclerosis-related GUCY1A3 variants.
Basic Res Cardiol
; 111(4): 51, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27342234
4.
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
Am J Hum Genet
; 91(5): 919-27, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23084290
5.
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Am J Hum Genet
; 89(5): 595-606, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22019272
6.
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Am J Hum Genet
; 88(2): 127-37, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21255762
7.
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Am J Hum Genet
; 86(3): 479-84, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20170898
8.
Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays.
Cancers (Basel)
; 15(20)2023 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37894392
9.
A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors.
Sci Rep
; 7(1): 10252, 2017 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28860667
10.
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Nat Genet
; 46(11): 1239-44, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25261934