Phokaew C - Search Results

1

Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes.

Phokaew C, Sittiwangkul R, Suphapeetiporn K, Shotelersuk V. Phokaew C, et al. Eur J Med Genet. 2020 Sep;63(9):103982. doi: 10.1016/j.ejmg.2020.103982. Epub 2020 Jun 11. Eur J Med Genet. 2020. PMID: 32534992

2

Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.

Kuptanon C, Srichomthong C, Ittiwut C, Wechapinan T, Sri-Udomkajorn S, Iamopas O, Phokaew C, Suphapeetiporn K, Shotelersuk V. Kuptanon C, et al. Among authors: phokaew c. Gene. 2019 May 15;696:21-27. doi: 10.1016/j.gene.2019.01.049. Epub 2019 Feb 14. Gene. 2019. PMID: 30771478

3

A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2.

Hemwong N, Phokaew C, Srichomthong C, Tongkobpetch S, Srilanchakon K, Supornsilchai V, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. Hemwong N, et al. Among authors: phokaew c. J Adv Res. 2019 Oct 21;21:121-127. doi: 10.1016/j.jare.2019.10.006. eCollection 2020 Jan. J Adv Res. 2019. PMID: 32071780 Free PMC article.

4

A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent.

Boonsimma P, Suwannachote S, Phokaew C, Ittiwut C, Suphapeetiporn K, Shotelersuk V. Boonsimma P, et al. Among authors: phokaew c. Brain Dev. 2020 Aug;42(7):546-550. doi: 10.1016/j.braindev.2020.03.005. Epub 2020 Apr 3. Brain Dev. 2020. PMID: 32249079

5

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: phokaew c. 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.

6

Sriwattanapong K, Nitayavardhana I, Theerapanon T, Thaweesapphithak S, Chantarawaratit PO, Garuyakich R, Phokaew C, Porntaveetus T, Shotelersuk V. Sriwattanapong K, et al. Among authors: phokaew c. Oral Dis. 2022 Apr;28(3):734-744. doi: 10.1111/odi.13780. Epub 2021 Feb 4. Oral Dis. 2022. PMID: 33486840

7

Prenatal Sonographic Features of CHARGE Syndrome.

Traisrisilp K, Chankhunaphas W, Sittiwangkul R, Phokaew C, Shotelersuk V, Tongsong T. Traisrisilp K, et al. Among authors: phokaew c. Diagnostics (Basel). 2021 Feb 28;11(3):415. doi: 10.3390/diagnostics11030415. Diagnostics (Basel). 2021. PMID: 33671041 Free PMC article.

8

Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.

Kamolvisit W, Phowthongkum P, Boonsimma P, Kuptanon C, Rojnueangnit K, Wattanasirichaigoon D, Chanvanichtrakool M, Phuaksaman C, Wiromrat P, Srichomthong C, Ittiwut C, Phokaew C, Ittiwut R, Assawapitaksakul A, Chetruengchai W, Buasong A, Suphapeetiporn K, Shotelersuk V. Kamolvisit W, et al. Among authors: phokaew c. Clin Genet. 2021 Jul;100(1):100-105. doi: 10.1111/cge.13963. Epub 2021 Apr 13. Clin Genet. 2021. PMID: 33822359

9

Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.

Manaspon C, Boonsimma P, Phokaew C, Theerapanon T, Sriwattanapong K, Porntaveetus T, Shotelersuk V. Manaspon C, et al. Among authors: phokaew c. Am J Med Genet A. 2021 Oct;185(10):3068-3073. doi: 10.1002/ajmg.a.62365. Epub 2021 May 26. Am J Med Genet A. 2021. PMID: 34037307

10

Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.

Tangsricharoen T, Natesirinilkul R, Phusua A, Fanhchaksai K, Ittiwut C, Chetruengchai W, Juntharaniyom M, Charoenkwan P, Viprakasit V, Phokaew C, Shotelersuk V. Tangsricharoen T, et al. Among authors: phokaew c. Br J Haematol. 2021 Aug;194(3):626-634. doi: 10.1111/bjh.17616. Epub 2021 Jul 5. Br J Haematol. 2021. PMID: 34227100

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