Detalhe da pesquisa
1.
A germline STAT6 gain-of-function variant is associated with early-onset allergies.
J Allergy Clin Immunol
; 151(2): 565-571.e9, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36216080
2.
TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand.
Emerg Infect Dis
; 28(11): 2350-2352, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191906
3.
Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.
Pediatr Allergy Immunol
; 33(1): e13701, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34796988
4.
Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.
Clin Genet
; 100(1): 100-105, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33822359
5.
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development.
PLoS Genet
; 14(11): e1007817, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30475797
6.
Novel mutations in Thai patients with glanzmann thrombasthenia.
Eur J Haematol
; 99(6): 520-524, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888044
7.
FOXE1 mutations in Thai patients with oral clefts.
Genet Res (Camb)
; 95(5): 133-7, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24252547
8.
Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis.
Sci Rep
; 13(1): 805, 2023 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646731
9.
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.
Eur J Hum Genet
; 31(2): 179-187, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36198807
10.
Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand.
J Clin Pathol
; 2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053262
11.
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Sci Rep
; 13(1): 22005, 2023 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38086984
12.
Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.
J Clin Pathol
; 75(2): 99-103, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33318085
13.
Genetic basis of sudden death after COVID-19 vaccination in Thailand.
Heart Rhythm
; 19(11): 1874-1879, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934244
14.
Association between polymorphisms in catechol-O-methyltransferase (COMT) and cocaine-induced paranoia in European-American and African-American populations.
Am J Med Genet B Neuropsychiatr Genet
; 156B(6): 651-60, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21656904
15.
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.
Brain Dev
; 43(3): 490-494, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33190975
16.
Whole exome sequencing for diagnosis of hereditary thrombocytopenia.
Medicine (Baltimore)
; 99(47): e23275, 2020 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217855
17.
Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy.
Eye (Lond)
; 34(5): 880-885, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31554942
18.
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.
J Endocr Soc
; 3(1): 171-180, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620004
19.
The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.
Gene
; 679: 377-381, 2018 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30223008
20.
rs11567842 SNP in SLC13A2 gene associates with hypocitraturia in Thai patients with nephrolithiasis.
Genes Genomics
; 40(9): 965-972, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30155711