Search details
1.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
; 147(4): 1436-1456, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-37951597
2.
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Mov Disord
; 39(1): 164-172, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37994247
3.
Tooth agenesis related to a novel KDF1 variant: A case report and literature review.
Oral Dis
; 2024 Mar 19.
Article
in English
| MEDLINE | ID: mdl-38501196
4.
Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG.
Oral Dis
; 30(2): 537-550, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-36650945
5.
In-depth investigation of FAM20A insufficiency effects on deciduous dental pulp cells: Altered behaviours, osteogenic differentiation, and inflammatory gene expression.
Int Endod J
; 57(6): 745-758, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38477421
6.
A germline STAT6 gain-of-function variant is associated with early-onset allergies.
J Allergy Clin Immunol
; 151(2): 565-571.e9, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36216080
7.
Novel CNNM4 variant and clinical features of Jalili syndrome.
Clin Genet
; 103(2): 256-257, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36354001
8.
Multifaceted roles of YEATS domain-containing proteins and novel links to neurological diseases.
Cell Mol Life Sci
; 79(3): 183, 2022 Mar 12.
Article
in English
| MEDLINE | ID: mdl-35279775
9.
PTEN regulates proliferation and osteogenesis of dental pulp cells and adipogenesis of human adipose-derived stem cells.
Oral Dis
; 29(2): 735-746, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-34558757
10.
Can knowledgeable experts assess costs and outcomes as if they were ignorant? An experiment within precision medicine evaluation.
Int J Technol Assess Health Care
; 40(1): e4, 2023 Nov 17.
Article
in English
| MEDLINE | ID: mdl-37973547
11.
Dental characteristics of patients with four different types of skeletal dysplasias.
Clin Oral Investig
; 27(10): 5827-5839, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37548766
12.
TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand.
Emerg Infect Dis
; 28(11): 2350-2352, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36191906
13.
Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.
J Hum Genet
; 67(3): 137-142, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-34621001
14.
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population.
J Hum Genet
; 67(5): 295-301, 2022 May.
Article
in English
| MEDLINE | ID: mdl-35013560
15.
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.
Article
in English
| MEDLINE | ID: mdl-34796988
16.
Patterns of molar agenesis associated with p.P20L and p.R77Q variants in PAX9.
Eur J Oral Sci
; 130(2): e12855, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35182440
17.
Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta.
Oral Dis
; 28(3): 734-744, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-33486840
18.
Pre-implantation genetic testing for Marfan syndrome using mini-sequencing.
J Obstet Gynaecol
; 42(7): 2846-2852, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-35972748
19.
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.
Article
in English
| MEDLINE | ID: mdl-34227100
20.
MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.
J Transl Med
; 19(1): 114, 2021 03 20.
Article
in English
| MEDLINE | ID: mdl-33743732