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Two infants with abetalipoproteinemia: Classic versus atypical presentation.
Prachasitthisak N, Tanpowpong P, Tim-Aroon T, Treepongkaruna S, Chongviriyaphan N, Vithayasai N, Iamopas O, Wattanasirichaigoon D. Prachasitthisak N, et al. Among authors: wattanasirichaigoon d. Pediatr Int. 2019 May;61(5):508-509. doi: 10.1111/ped.13822. Epub 2019 May 14. Pediatr Int. 2019. PMID: 31087595 No abstract available.
Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.
Treepongkaruna S, Chongviriyaphan N, Suthutvoravut U, Charoenpipop D, Choubtum L, Wattanasirichaigoon D. Treepongkaruna S, et al. Among authors: wattanasirichaigoon d. J Pediatr Gastroenterol Nutr. 2009 Mar;48(3):370-3. doi: 10.1097/mpg.0b013e318183188f. J Pediatr Gastroenterol Nutr. 2009. PMID: 19274794 No abstract available.
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
Ngiwsara L, Rojnueangnit K, Wattanasirichaigoon D, Tim-Aroon T, Sawangareetrakul P, Champattanachai V, Ketudat-Cairns JR, Svasti J. Ngiwsara L, et al. Among authors: wattanasirichaigoon d. Exp Ther Med. 2017 Jun;13(6):2989-2996. doi: 10.3892/etm.2017.4303. Epub 2017 Apr 5. Exp Ther Med. 2017. PMID: 28588666 Free PMC article.
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Hnoonual A, Thammachote W, Tim-Aroon T, Rojnueangnit K, Hansakunachai T, Sombuntham T, Roongpraiwan R, Worachotekamjorn J, Chuthapisith J, Fucharoen S, Wattanasirichaigoon D, Ruangdaraganon N, Limprasert P, Jinawath N. Hnoonual A, et al. Among authors: wattanasirichaigoon d. Sci Rep. 2017 Sep 21;7(1):12096. doi: 10.1038/s41598-017-12317-3. Sci Rep. 2017. PMID: 28935972 Free PMC article.
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Ngiwsara L, Ketudat-Cairns JR, Sawangareetrakul P, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Tim-Aroon T, Wattanasirichaigoon D, Svasti J. Ngiwsara L, et al. Among authors: wattanasirichaigoon d. Ann Hum Genet. 2018 May;82(3):150-157. doi: 10.1111/ahg.12236. Epub 2017 Dec 28. Ann Hum Genet. 2018. PMID: 29282708
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Rojnueangnit K, Charalsawadi C, Thammachote W, Pradabmuksiri A, Tim-Aroon T, Novelli A, Loddo S, Briuglia S, Concetta CM, Wattanasirichaigoon D, Jinawath N. Rojnueangnit K, et al. Among authors: wattanasirichaigoon d. Mol Genet Genomic Med. 2019 Sep;7(9):e896. doi: 10.1002/mgg3.896. Epub 2019 Aug 7. Mol Genet Genomic Med. 2019. PMID: 31390163 Free PMC article. Clinical Trial.
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