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1 |
Material Type: Artigo
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Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophyUrkasemsin, G. ; Pongpanich, M. ; Sariya, L. ; Kongcharoen, A. ; Buddhirongawatr, R. ; Rungarunlert, S. ; Ferreira, J. N. ; Chetruengchai, W. ; Phokaew, C. ; Srichomthong, C. ; Shotelersuk, V.Animal genetics, 2021-10, Vol.52 (5), p.714-719 [Periódico revisado por pares]Oxford: Wiley Subscription Services, IncTexto completo disponível |
2 |
Material Type: Artigo
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De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndromeShotelersuk, V. ; Janklat, S. ; Siriwan, P. ; Tongkobpetch, S.Clinical and experimental dermatology, 2005-05, Vol.30 (3), p.282-285 [Periódico revisado por pares]Oxford, UK: Blackwell Science LtdTexto completo disponível |
3 |
Material Type: Artigo
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Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndromeShotelersuk, V. ; Tongkobpetch, S.Clinical and experimental dermatology, 2005-07, Vol.30 (4), p.419-421 [Periódico revisado por pares]Oxford, UK: Blackwell Science LtdTexto completo disponível |
4 |
Material Type: Artigo
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Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich SyndromeAmarinthnukrowh, P. ; Ittiporn, S. ; Tongkobpetch, S. ; Chatchatee, P. ; Sosothikul, D. ; Shotelersuk, V. ; Suphapeetiporn, K.Scandinavian journal of immunology, 2013-01, Vol.77 (1), p.69-74 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
5 |
Material Type: Artigo
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Association of CD247 with systemic lupus erythematosus in Asian populationsLi, R ; Yang, W ; Zhang, J ; Hirankarn, N ; Pan, H-F ; Mok, CC ; Chan, TM ; Wong, RWS ; Mok, MY ; Lee, KW ; Wong, SN ; Leung, AMH ; Li, X-P ; Avihingsanon, Y ; Lee, TL ; Ho, MHK ; Lee, PPW ; Wong, WHS ; Wong, C-M ; Ng, IOL ; Yang, J ; Li, PH ; Zhang, Y ; Zhang, L ; Li, W ; Baum, L ; Kwan, P ; Rianthavorn, P ; Deekajorndej, T ; Suphapeetiporn, K ; Shotelersuk, V ; Garcia-Barceló, M-M ; Cherny, SS ; Tam, PK-H ; Sham, PC ; Lau, CS ; Shen, N ; Lau, YL ; Ye, D-QLupus, 2012-01, Vol.21 (1), p.75-83 [Periódico revisado por pares]London, England: SAGE PublicationsTexto completo disponível |
6 |
Material Type: Artigo
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Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1Brantly, Mark ; Avila, Nilo A. ; Shotelersuk, Vorasuk ; Lucero, Cynthia ; Huizing, Marjan ; Gahl, William A.Chest, 2000-01, Vol.117 (1), p.129-136 [Periódico revisado por pares]Northbrook, IL: Elsevier IncTexto completo disponível |
7 |
Material Type: Artigo
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Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomesChetruengchai, Wanna ; Shotelersuk, VorasukJournal of human genetics, 2022-03, Vol.67 (3), p.137-142 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
8 |
Material Type: Artigo
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Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1Yeetong, Patra ; Chunharas, Chaipat ; Pongpanich, Monnat ; Bennett, Mark F ; Srichomthong, Chalurmpon ; Pasutharnchat, Nath ; Suphapeetiporn, Kanya ; Bahlo, Melanie ; Shotelersuk, VorasukEuropean journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.343-348 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
9 |
Material Type: Artigo
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Long-term results of hypofractionation with concomitant boost in patients with early breast cancer: A prospective studySaksornchai, Kitwadee ; Jaruthien, Thitiporn ; Nantavithya, Chonnipa ; Shotelersuk, Kanjana ; Rojpornpradit, Prayuth Alongi, PierpaoloPloS one, 2021-10, Vol.16 (10), p.e0258186-e0258186 [Periódico revisado por pares]San Francisco: Public Library of ScienceTexto completo disponível |
10 |
Material Type: Artigo
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Host genetic factors of COVID-19 susceptibility and disease severity in a Thai populationChamnanphon, Monpat ; Pongpanich, Monnat ; Suttichet, Thitima Benjachat ; Jantarabenjakul, Watsamon ; Torvorapanit, Pattama ; Putcharoen, Opass ; Sodsai, Pimpayao ; Phokaew, Chureerat ; Hirankarn, Nattiya ; Chariyavilaskul, Pajaree ; Shotelersuk, VorasukJournal of human genetics, 2022-05, Vol.67 (5), p.295-301 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |