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Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease: Response to letter "Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth" by J. Finsterer and Claudia Stöllberger, DOI 10.1007/s10545-013-9612-4.
Tanpaiboon P, Venditti CP. Tanpaiboon P, et al. J Inherit Metab Dis. 2013 Nov;36(6):1085. doi: 10.1007/s10545-013-9644-9. Epub 2013 Aug 22. J Inherit Metab Dis. 2013. PMID: 23974651 Free PMC article. No abstract available.
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T. Gunay-Aygun M, et al. Among authors: tanpaiboon p. Blood. 2010 Dec 2;116(23):4990-5001. doi: 10.1182/blood-2010-05-286534. Epub 2010 Aug 13. Blood. 2010. PMID: 20709904 Free PMC article.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L. Markovitz R, et al. Among authors: tanpaiboon p. Am J Med Genet A. 2020 May;182(5):1167-1176. doi: 10.1002/ajmg.a.61544. Epub 2020 Mar 17. Am J Med Genet A. 2020. PMID: 32181591 Free PMC article.
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.
Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M. Kruszka P, et al. Among authors: tanpaiboon p. J Med Genet. 2017 Dec;54(12):825-829. doi: 10.1136/jmedgenet-2017-104611. Epub 2017 Jun 7. J Med Genet. 2017. PMID: 28592524
Role of elosulfase alfa in mucopolysaccharidosis IVA.
Regier DS, Tanpaiboon P. Regier DS, et al. Among authors: tanpaiboon p. Appl Clin Genet. 2016 Jun 14;9:67-74. doi: 10.2147/TACG.S69080. eCollection 2016. Appl Clin Genet. 2016. PMID: 27366102 Free PMC article. Review.
Laboratory diagnostic approaches in metabolic disorders.
Guerrero RB, Salazar D, Tanpaiboon P. Guerrero RB, et al. Among authors: tanpaiboon p. Ann Transl Med. 2018 Dec;6(24):470. doi: 10.21037/atm.2018.11.05. Ann Transl Med. 2018. PMID: 30740401 Free PMC article. Review.
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
Tim-Aroon T, Wichajarn K, Katanyuwong K, Tanpaiboon P, Vatanavicharn N, Sakpichaisakul K, Kongkrapan A, Eu-Ahsunthornwattana J, Thongpradit S, Moolsuwan K, Satproedprai N, Mahasirimongkol S, Lerksuthirat T, Suktitipat B, Jinawath N, Wattanasirichaigoon D. Tim-Aroon T, et al. Among authors: tanpaiboon p. BMC Pediatr. 2021 Jan 7;21(1):22. doi: 10.1186/s12887-020-02481-3. BMC Pediatr. 2021. PMID: 33407268 Free PMC article.
Noonan Syndrome in Thai Children.
Boonchooduang N, Louthrenoo O, Tanpaiboon P. Boonchooduang N, et al. Among authors: tanpaiboon p. Indian Pediatr. 2020 Oct 15;57(10):967-968. Indian Pediatr. 2020. PMID: 33089815 Free article.
62 results