Detalhe da pesquisa
1.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
2.
Biallelic variants in PSMB1 encoding the proteasome subunit ß6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Hum Mol Genet
; 29(7): 1132-1143, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129449
3.
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Hum Mol Genet
; 29(4): 618-623, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31903486
4.
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Am J Hum Genet
; 104(6): 1073-1087, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079899
5.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Am J Hum Genet
; 105(5): 907-920, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607425
6.
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Hum Mol Genet
; 28(6): 972-979, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30481285
7.
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Am J Hum Genet
; 103(4): 568-578, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290152
8.
HCV genotype-specific correlation with serum markers: higher predictability for genotype 4a.
Virol J
; 8: 293, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21663629
9.
Claudin-1 required for HCV virus entry has high potential for phosphorylation and O-glycosylation.
Virol J
; 8: 229, 2011 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21569618
10.
A brief review on molecular, genetic and imaging techniques for HCV fibrosis evaluation.
Virol J
; 8: 53, 2011 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21299910
11.
NS4A protein as a marker of HCV history suggests that different HCV genotypes originally evolved from genotype 1b.
Virol J
; 8: 317, 2011 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-21696641
12.
Association of laboratory parameters with viral factors in patients with hepatitis C.
Virol J
; 8: 361, 2011 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21777434
13.
Serine 204 phosphorylation and O-ß-GlcNAC interplay of IGFBP-6 as therapeutic indicator to regulate IGF-II functions in viral mediated hepatocellular carcinoma.
Virol J
; 8: 208, 2011 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21548981
14.
A comparison of four fibrosis indexes in chronic HCV: development of new fibrosis-cirrhosis index (FCI).
BMC Gastroenterol
; 11: 44, 2011 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21507271