Detalhe da pesquisa
1.
Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study.
Lancet
; 403(10427): 645-656, 2024 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38278170
2.
Quantitative assessment of glomerular basement membrane collagen IV α chains in paraffin sections from patients with focal segmental glomerulosclerosis and Alport gene variants.
Kidney Int
; 105(5): 1049-1057, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38401706
3.
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
4.
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
5.
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
6.
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
7.
The Thai reference exome (T-REx) variant database.
Clin Genet
; 100(6): 703-712, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34496037
8.
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
9.
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
10.
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
Brain
; 142(11): 3360-3366, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31539032
11.
Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.
Mol Genet Genomics
; 294(3): 773-787, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30887145
12.
Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.
Clin Oral Investig
; 23(1): 303-313, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29679229
13.
The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.
BMC Med Genet
; 19(1): 117, 2018 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30012084
14.
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.
Skeletal Radiol
; 47(11): 1577-1582, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29744569
15.
Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus.
Hum Mol Genet
; 24(1): 274-84, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25149475
16.
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.
BMC Med Genet
; 18(1): 25, 2017 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257626
17.
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
18.
Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
Clin Genet
; 102(3): 242-243, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35703132
19.
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.
Am J Med Genet A
; 173(10): 2747-2752, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28763161
20.
Novel mutations in Thai patients with glanzmann thrombasthenia.
Eur J Haematol
; 99(6): 520-524, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888044