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Levodopa-induced dyskinesia in early-onset Parkinson's disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand.
Thanprasertsuk S, Phowthongkum P, Hopetrungraung T, Poorirerngpoom C, Sathirapatya T, Wichit P, Phokaewvarangkul O, Vongpaisarnsin K, Bongsebandhu-Phubhakdi S, Bhidayasiri R. Thanprasertsuk S, et al. Among authors: phowthongkum p. PLoS One. 2023 Oct 31;18(10):e0293516. doi: 10.1371/journal.pone.0293516. eCollection 2023. PLoS One. 2023. PMID: 37906549 Free PMC article.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Ten Hagen M, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, … See abstract for full author list ➔ Lesmann H, et al. Among authors: phowthongkum p. medRxiv [Preprint]. 2024 May 21:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
Lynch Syndrome in Thai Endometrial Cancer Patients.
Manchana T, Ariyasriwatana C, Triratanachat S, Phowthongkum P. Manchana T, et al. Among authors: phowthongkum p. Asian Pac J Cancer Prev. 2021 May 1;22(5):1477-1483. doi: 10.31557/APJCP.2021.22.5.1477. Asian Pac J Cancer Prev. 2021. PMID: 34048176 Free PMC article.
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: phowthongkum p. Clin Genet. 2021 Jul;100(1):100-105. doi: 10.1111/cge.13963. Epub 2021 Apr 13. Clin Genet. 2021. PMID: 33822359
Novel DDX41 variants in Thai patients with myeloid neoplasms.
Polprasert C, Takeda J, Niparuck P, Rattanathammethee T, Pirunsarn A, Suksusut A, Kobbuaklee S, Wudhikarn K, Lawasut P, Kongkiatkamon S, Chuncharunee S, Songserm K, Phowthongkum P, Bunworasate U, Nannya Y, Yoshida K, Makishima H, Ogawa S, Rojnuckarin P. Polprasert C, et al. Among authors: phowthongkum p. Int J Hematol. 2020 Feb;111(2):241-246. doi: 10.1007/s12185-019-02770-3. Epub 2019 Nov 11. Int J Hematol. 2020. PMID: 31713024
27 results