Shotelersuk V - Search Results

1

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.

Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V. Leoyklang P, et al. Among authors: shotelersuk v. Clin Genet. 2008 Apr;73(4):373-9. doi: 10.1111/j.1399-0004.2008.00975.x. Epub 2008 Mar 3. Clin Genet. 2008. PMID: 18325042

2

Expanding the phenotypic spectrum of Caffey disease.

Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Suphapeetiporn K, et al. Among authors: shotelersuk v. Clin Genet. 2007 Mar;71(3):280-4. doi: 10.1111/j.1399-0004.2007.00768.x. Clin Genet. 2007. PMID: 17309652

3

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.

Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V. Suphapeetiporn K, et al. Among authors: shotelersuk v. Clin Genet. 2007 Nov;72(5):478-83. doi: 10.1111/j.1399-0004.2007.00891.x. Epub 2007 Sep 14. Clin Genet. 2007. PMID: 17868388

4

Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Tammachote R, et al. Among authors: shotelersuk v. Clin Genet. 2010 Jul;78(1):88-93. doi: 10.1111/j.1399-0004.2009.01357.x. Epub 2009 Dec 2. Clin Genet. 2010. PMID: 20095979

5

A mutation of the p63 gene in non-syndromic cleft lip.

Leoyklang P, Siriwan P, Shotelersuk V. Leoyklang P, et al. Among authors: shotelersuk v. J Med Genet. 2006 Jun;43(6):e28. doi: 10.1136/jmg.2005.036442. J Med Genet. 2006. PMID: 16740912 Free PMC article.

6

Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate.

Tongkobpetch S, Suphapeetiporn K, Siriwan P, Shotelersuk V. Tongkobpetch S, et al. Among authors: shotelersuk v. Int J Oral Maxillofac Surg. 2008 Jun;37(6):550-3. doi: 10.1016/j.ijom.2008.01.024. Epub 2008 Mar 19. Int J Oral Maxillofac Surg. 2008. PMID: 18356023

7

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.

Suphapeetiporn K, Srichomthong C, Shotelersuk V. Suphapeetiporn K, et al. Among authors: shotelersuk v. Clin Genet. 2011 Apr;79(4):391-3. doi: 10.1111/j.1399-0004.2010.01552.x. Clin Genet. 2011. PMID: 21371013 No abstract available.

8

Pathogenic mechanism of mutations in the thyroid hormone receptor β gene.

Pongjantarasatian S, Wacharasindhu S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Pongjantarasatian S, et al. Among authors: shotelersuk v. J Endocrinol Invest. 2012 Jun;35(6):557-61. doi: 10.3275/7876. Epub 2011 Jul 27. J Endocrinol Invest. 2012. PMID: 21795843

9

Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.

Veeravigrom M, Damrongphol P, Ittiwut R, Ittiwut C, Suphapeetiporn K, Shotelersuk V. Veeravigrom M, et al. Among authors: shotelersuk v. Genet Mol Res. 2015 Oct 30;14(4):14130-5. doi: 10.4238/2015.October.29.34. Genet Mol Res. 2015. PMID: 26535729 Free article.

10

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita.

Sangsin A, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V. Sangsin A, et al. Among authors: shotelersuk v. Genet Mol Res. 2016 Mar 11;15(1):15017624. doi: 10.4238/gmr.15017624. Genet Mol Res. 2016. PMID: 26985960 Free article.

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