Detalhe da pesquisa
1.
LXR directly regulates glycosphingolipid synthesis and affects human CD4+ T cell function.
Proc Natl Acad Sci U S A
; 118(21)2021 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34006637
2.
Dynamic altruistic cooperation within breast tumors.
Mol Cancer
; 22(1): 206, 2023 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38093346
3.
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).
Clin Genet
; 101(5-6): 541-551, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064937
4.
Diagnostic genomic laboratories should share their data.
Nature
; 594(7862): 177, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34103719
5.
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
N Engl J Med
; 387(3): 284, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35857671
6.
Performance evaluation of Cepheid Xpert Norovirus kit with a user-modified protocol.
J Med Virol
; 90(3): 485-489, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29073731
7.
Role of Asymptomatic Children in Community Severe Acute Respiratory Syndrome Coronavirus 2 Transmission.
J Infect Dis
; 223(10): 1834-1836, 2021 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33728456
8.
Caveats of Reporting Cycle Threshold Values from Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Qualitative Polymerase Chain Reaction Assays: A Molecular Diagnostic Laboratory Perspective.
Clin Infect Dis
; 73(9): e2851-e2852, 2021 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929464
9.
A Novel Indel in the Alpha Globin 2 (HBA2) Gene Resulting in False Positive -α3.7 on Multiplex gap-PCR Assay.
Clin Chem
; 67(9): 1284-1287, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34333591
10.
Detecting SARS-CoV-2 RNA in fecal specimens: The practical challenges.
J Med Virol
; 93(9): 5241-5242, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34101844
11.
One-step molecular detection of the MYD88 L265P mutation by unlabeled probe genotyping analysis.
Mol Cell Probes
; 29(1): 74-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25462104
12.
Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.
Mol Genet Genomic Med
; 12(1): e2285, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740604
13.
A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl.
J Pediatr Genet
; 12(4): 308-311, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38162152
14.
Targeting both rs12979860 and rs8099917 polymorphisms with a single-tube high-resolution melting assay for IL28b genotyping.
J Clin Microbiol
; 50(10): 3353-5, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22814458
15.
A direct sequencing assay for pharmacogenetic testing of thiopurine-intolerant NUDT15 alleles in an Asian population.
BMC Res Notes
; 15(1): 148, 2022 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35468862
16.
In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing.
Sci Rep
; 11(1): 11114, 2021 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34045478
17.
Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis.
Glob Med Genet
; 8(2): 62-68, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33987625
18.
A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.
Hum Genome Var
; 8(1): 35, 2021 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34471093
19.
Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of HFE-Related Hereditary Hemochromatosis.
Genet Test Mol Biomarkers
; 24(9): 608-611, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32762549
20.
Genetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia.
Hum Genome Var
; 7: 7, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32257292