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Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review.
Tangshewinsirikul C, Dulyaphat W, Tim-Aroon T, Parinayok R, Chareonsirisuthigul T, Korkiatsakul V, Waisayarat J, Sirisreetreerux P, Tingthanatikul Y, Wattanasirichaigoon D. Tangshewinsirikul C, et al. J Pediatr Genet. 2020 Dec;9(4):221-226. doi: 10.1055/s-0040-1713002. Epub 2020 Jun 17. J Pediatr Genet. 2020. PMID: 32733741 Free PMC article.
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. 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. Sci Rep. 2017 Sep 21;7(1):12096. doi: 10.1038/s41598-017-12317-3. Sci Rep. 2017. PMID: 28935972 Free PMC article.
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. 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.
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. 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.
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J. Ngiwsara L, et al. BMC Med Genet. 2019 Sep 11;20(1):156. doi: 10.1186/s12881-019-0878-8. BMC Med Genet. 2019. PMID: 31510962 Free PMC article.
40 results