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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE. Sousa SB, et al. Among authors: wattanasirichaigoon d. Nat Genet. 2014 Jan;46(1):70-6. doi: 10.1038/ng.2829. Epub 2013 Nov 17. Nat Genet. 2014. PMID: 24241535
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.
Adachi T, El-Hattab AW, Jain R, Nogales Crespo KA, Quirland Lazo CI, Scarpa M, Summar M, Wattanasirichaigoon D. Adachi T, et al. Among authors: wattanasirichaigoon d. Int J Environ Res Public Health. 2023 Mar 8;20(6):4732. doi: 10.3390/ijerph20064732. Int J Environ Res Public Health. 2023. PMID: 36981643 Free PMC article. Review.
Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease.
Kangboonruang K, Pornsukjantra T, Tong-Ngam P, Chokpanuwat T, Tim-Aroon T, Wattanasirichaigoon D, Anurathapan U, Hongeng S, Asavapanumas N, Bhukhai K, Tubsuwan A. Kangboonruang K, et al. Among authors: wattanasirichaigoon d. Stem Cell Res. 2023 Dec;73:103229. doi: 10.1016/j.scr.2023.103229. Epub 2023 Oct 18. Stem Cell Res. 2023. PMID: 37890332 Free article.
A common and two novel GBA mutations in Thai patients with Gaucher disease.
Tammachote R, Tongkobpetch S, Srichomthong C, Phipatthanananti K, Pungkanon S, Wattanasirichaigoon D, Suphapeetiporn K, Shotelersuk V. Tammachote R, et al. Among authors: wattanasirichaigoon d. J Hum Genet. 2013 Sep;58(9):594-9. doi: 10.1038/jhg.2013.60. Epub 2013 May 30. J Hum Genet. 2013. PMID: 23719189
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. Gordon CT, et al. Among authors: wattanasirichaigoon d. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067911 Free article.
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Nowak KJ, et al. Among authors: wattanasirichaigoon d. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
Vatanavicharn N, Champattanachai V, Liammongkolkul S, Sawangareetrakul P, Keeratichamroen S, Ketudat Cairns JR, Srisomsap C, Sathienkijkanchai A, Shotelersuk V, Kamolsilp M, Wattanasirichaigoon D, Svasti J, Wasant P. Vatanavicharn N, et al. Among authors: wattanasirichaigoon d. Mol Genet Metab. 2012 Aug;106(4):424-9. doi: 10.1016/j.ymgme.2012.05.012. Epub 2012 May 29. Mol Genet Metab. 2012. PMID: 22695176
94 results