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Page 1
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.
Genes (Basel). 2021 Oct 7;12(10):1583. doi: 10.3390/genes12101583.
Genes (Basel). 2021.
PMID: 34680978
Free PMC article.
Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis.
Thewamit R, Khongkhatithum C, Thampratankul L, Kamolvisit W, Khongkrapan A, Wattanasirichaigoon D.
Thewamit R, et al. Among authors: khongkrapan a.
Front Pediatr. 2023 Aug 8;11:1155035. doi: 10.3389/fped.2023.1155035. eCollection 2023.
Front Pediatr. 2023.
PMID: 37614902
Free PMC article.
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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. Among authors: khongkrapan a.
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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An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients.
Pornsukjantra T, Saikachain N, Sutjarit N, Khongkrapan A, Tubsuwan A, Bhukhai K, Tim-Aroon T, Anurathapan U, Hongeng S, Asavapanumas N.
Pornsukjantra T, et al. Among authors: khongkrapan a.
Sci Rep. 2024 Apr 22;14(1):9177. doi: 10.1038/s41598-024-59834-6.
Sci Rep. 2024.
PMID: 38649404
Free PMC article.
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