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Genetic diagnosis for adult patients at a genetic clinic.
Rojnueangnit K, Anthanont P, Khetkham T, Puttamanee S, Ittiwut C. Rojnueangnit K, et al. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006235. doi: 10.1101/mcs.a006235. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36265913 Free PMC article.
Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome.
Chukua K, Netsawang C, Padungthai K, Khetkham T, Chokevittaya P, Poonjearansilp O, Prachuktum S, Kositamongkol S, Techasatit W, Silapamongkolkul P, Satayasai W, Pusongchai T, Surapolchai P, Rojnueangnit K. Chukua K, et al. Among authors: rojnueangnit k. J Pediatr Genet. 2019 Dec;8(4):187-192. doi: 10.1055/s-0039-1696971. Epub 2019 Sep 11. J Pediatr Genet. 2019. PMID: 31687255 Free PMC article.
Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency.
Rojnueangnit K, Maneechai P, Thaweekul P, Piriyanon P, Khositseth S, Ittiwut C, Chetruengchai W, Kamolvisit W, Theerapanon T, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. Rojnueangnit K, et al. Eur J Med Genet. 2020 Dec;63(12):104086. doi: 10.1016/j.ejmg.2020.104086. Epub 2020 Oct 9. Eur J Med Genet. 2020. PMID: 33045405
Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.
Kamolvisit W, Phowthongkum P, Boonsimma P, Kuptanon C, Rojnueangnit K, Wattanasirichaigoon D, Chanvanichtrakool M, Phuaksaman C, Wiromrat P, Srichomthong C, Ittiwut C, Phokaew C, Ittiwut R, Assawapitaksakul A, Chetruengchai W, Buasong A, Suphapeetiporn K, Shotelersuk V. Kamolvisit W, et al. Among authors: rojnueangnit k. Clin Genet. 2021 Jul;100(1):100-105. doi: 10.1111/cge.13963. Epub 2021 Apr 13. Clin Genet. 2021. PMID: 33822359
29 results