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.
Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.
Br J Haematol
; 194(3): 626-634, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34227100
5.
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
6.
Coinherited Hemoglobin H/Constant Spring Disease and Heterozygous Hemoglobin Tak Causing Severe Hemolytic Anemia in a Thai Boy.
J Pediatr Hematol Oncol
; 43(5): e723-e726, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32925409
7.
Female-restricted syndromic intellectual disability in a patient from Thailand.
Am J Med Genet A
; 179(5): 758-761, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30828969
8.
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
BMC Med Genet
; 18(1): 102, 2017 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28915855
9.
Novel mutations in Thai patients with glanzmann thrombasthenia.
Eur J Haematol
; 99(6): 520-524, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888044
10.
Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
J Clin Immunol
; 40(1): 227-231, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707513
11.
Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia.
Br J Haematol
; 185(3): 578-582, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30198572
12.
Prevalence and clinical outcomes of germline variants among patients with myeloid neoplasms.
J Clin Pathol
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38777570
13.
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
14.
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
Sci Rep
; 13(1): 1376, 2023 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36697461
15.
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
16.
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
17.
Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
Sci Rep
; 13(1): 3328, 2023 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849527
18.
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
19.
GABRG1 and GABRA2 variation associated with alcohol dependence in African Americans.
Alcohol Clin Exp Res
; 36(4): 588-93, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21919924
20.
Genetic diagnosis for adult patients at a genetic clinic.
Cold Spring Harb Mol Case Stud
; 8(7)2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265913