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Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Orphanet J Rare Dis. 2021 Dec 20;16(1):519. doi: 10.1186/s13023-021-02151-2.
Orphanet J Rare Dis. 2021.
PMID: 34930372
Free PMC article.
Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand.
Phetthong T, Tim-Aroon T, Khongkrapan A, Poomthavorn P, Wattanasirichaigoon D.
Phetthong T, et al.
Am J Med Genet A. 2020 Aug;182(8):1873-1876. doi: 10.1002/ajmg.a.61723. Epub 2020 Jun 11.
Am J Med Genet A. 2020.
PMID: 32525229
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Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.
Phetthong T, Khongkrapan A, Jinawath N, Seo GH, Wattanasirichaigoon D.
Phetthong T, et al.
Genes (Basel). 2021 Oct 7;12(10):1583. doi: 10.3390/genes12101583.
Genes (Basel). 2021.
PMID: 34680978
Free PMC article.
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Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency.
Boonyawat B, Phetthong T, Suksumek N, Traivaree C.
Boonyawat B, et al. Among authors: phetthong t.
Anemia. 2021 Feb 9;2021:6680925. doi: 10.1155/2021/6680925. eCollection 2021.
Anemia. 2021.
PMID: 33628497
Free PMC article.
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A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.
Noojarern S, Tim-Aroon T, Anurat K, Phetthong T, Khongkraparn A, Wattanasirichaigoon D.
Noojarern S, et al. Among authors: phetthong t.
Am J Med Genet A. 2024 Apr 29:e63639. doi: 10.1002/ajmg.a.63639. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38682877
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