Shotelersuk V - Search Results

1

Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population.

Wankaew N, Chariyavilaskul P, Chamnanphon M, Assawapitaksakul A, Chetruengchai W, Pongpanich M, Shotelersuk V. Wankaew N, et al. Among authors: shotelersuk v. PLoS One. 2022 Feb 17;17(2):e0263621. doi: 10.1371/journal.pone.0263621. eCollection 2022. PLoS One. 2022. PMID: 35176049 Free PMC article.

2

Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy.

Chaiyasap P, Kulawonganunchai S, Srichomthong C, Tongsima S, Suphapeetiporn K, Shotelersuk V. Chaiyasap P, et al. Among authors: shotelersuk v. PLoS One. 2014 Jun 20;9(6):e100191. doi: 10.1371/journal.pone.0100191. eCollection 2014. PLoS One. 2014. PMID: 24950249 Free PMC article.

3

Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population.

Ittiwut R, Ittiwut C, Siriwan P, Chichareon V, Suphapeetiporn K, Shotelersuk V. Ittiwut R, et al. Among authors: shotelersuk v. Genet Test Mol Biomarkers. 2016 Jul;20(7):406-9. doi: 10.1089/gtmb.2015.0325. Epub 2016 May 26. Genet Test Mol Biomarkers. 2016. PMID: 27227907

4

Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.

Sangsin A, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V. Sangsin A, et al. Among authors: shotelersuk v. BMC Med Genet. 2016 Dec 12;17(1):96. doi: 10.1186/s12881-016-0357-4. BMC Med Genet. 2016. PMID: 27955642 Free PMC article.

5

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.

Sangsin A, Kuptanon C, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V. Sangsin A, et al. Among authors: shotelersuk v. BMC Med Genet. 2017 Mar 4;18(1):25. doi: 10.1186/s12881-017-0384-9. BMC Med Genet. 2017. PMID: 28257626 Free PMC article.

6

The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.

Chongsrisawat V, Damrongphol P, Ittiwut C, Ittiwut R, Suphapeetiporn K, Shotelersuk V. Chongsrisawat V, et al. Among authors: shotelersuk v. Gene. 2018 Dec 30;679:377-381. doi: 10.1016/j.gene.2018.09.026. Epub 2018 Sep 14. Gene. 2018. PMID: 30223008

7

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.

Yeetong P, Pongpanich M, Srichomthong C, Assawapitaksakul A, Shotelersuk V, Tantirukdham N, Chunharas C, Suphapeetiporn K, Shotelersuk V. Yeetong P, et al. Among authors: shotelersuk v. Brain. 2019 Nov 1;142(11):3360-3366. doi: 10.1093/brain/awz267. Brain. 2019. PMID: 31539032

8

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.

Yeetong P, Chunharas C, Pongpanich M, Bennett MF, Srichomthong C, Pasutharnchat N, Suphapeetiporn K, Bahlo M, Shotelersuk V. Yeetong P, et al. Among authors: shotelersuk v. Eur J Hum Genet. 2021 Feb;29(2):343-348. doi: 10.1038/s41431-020-00729-1. Epub 2020 Sep 24. Eur J Hum Genet. 2021. PMID: 32973343 Free PMC article.

9

Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency.

Rojnueangnit K, Maneechai P, Thaweekul P, Piriyanon P, Khositseth S, Ittiwut C, Chetruengchai W, Kamolvisit W, Theerapanon T, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. Rojnueangnit K, et al. Among authors: shotelersuk v. Eur J Med Genet. 2020 Dec;63(12):104086. doi: 10.1016/j.ejmg.2020.104086. Epub 2020 Oct 9. Eur J Med Genet. 2020. PMID: 33045405

10

A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.

Cheawsamoot C, Phokaew C, Chetruengchai W, Chantranuwat P, Puwanant S, Tongsima S, Khongphatthanayothin A, Shotelersuk V. Cheawsamoot C, et al. Among authors: shotelersuk v. Circ Genom Precis Med. 2020 Dec;13(6):e003127. doi: 10.1161/CIRCGEN.120.003127. Epub 2020 Nov 15. Circ Genom Precis Med. 2020. PMID: 33191771 No abstract available.

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