Detalhe da pesquisa
1.
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
Hum Mol Genet
; 33(11): 945-957, 2024 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38453143
2.
Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.
Hum Genomics
; 16(1): 57, 2022 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371311
3.
Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.
J Gene Med
; 23(1): e3279, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989887
4.
Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.
Neural Plast
; 2021: 5528434, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33976695
5.
A validation study of UCSD-Mayo risk score in predicting hospital-acquired acute kidney injury in COVID-19 patients.
Ren Fail
; 43(1): 1115-1123, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233570
6.
Hypophosphatemia is an independent risk factor for AKI among hospitalized patients with COVID-19 infection.
Ren Fail
; 43(1): 1329-1337, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34541999
7.
A highly sensitive DNAzyme-based SERS biosensor for quantitative detection of lead ions in human serum.
Anal Bioanal Chem
; 412(19): 4565-4574, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32468280
8.
Au@Ag core-shell nanoparticles for microRNA-21 determination based on duplex-specific nuclease signal amplification and surface-enhanced Raman scattering.
Mikrochim Acta
; 187(7): 384, 2020 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533266
9.
Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family.
J Hum Genet
; 63(10): 1071-1076, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30033443
10.
Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family.
Front Genet
; 14: 1275633, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38274113
11.
Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
Genes (Basel)
; 14(2)2023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833373
12.
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.
Eur J Hum Genet
; 31(6): 629-637, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797467
13.
Association between XRCC3 p.Thr241Met polymorphism and risk of glioma: A systematic review and meta-analysis.
PLoS One
; 17(10): e0276313, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36264998
14.
A Validation Study Comparing Risk Prediction Models of IgA Nephropathy.
Front Immunol
; 12: 753901, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34721428
15.
Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations.
Mol Genet Genomic Med
; 8(8): e1281, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32441489
16.
A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility.
Sci Bull (Beijing)
; 65(24): 2120-2129, 2020 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732965
17.
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.
J Exp Med
; 217(2)2020 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658987
18.
A graphene oxide-based hairpin probe coupling duplex-specific nuclease signal amplification for detection and imaging of mRNA in living cells.
Talanta
; 195: 732-738, 2019 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30625609
19.
CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis.
Breast Cancer
; 26(1): 11-28, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30039340
20.
The deubiquitinating gene Usp29 is dispensable for fertility in male mice.
Sci China Life Sci
; 62(4): 544-552, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30919279