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Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Orphanet J Rare Dis. 2021 Dec 20;16(1):519. doi: 10.1186/s13023-021-02151-2.
Orphanet J Rare Dis. 2021.
PMID: 34930372
Free PMC article.
Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.
Rojnueangnit K, Sirichongkolthong B, Wongwandee R, Khetkham T, Noojarern S, Khongkraparn A, Wattanasirichaigoon D.
Rojnueangnit K, et al. Among authors: noojarern s.
Pediatr Cardiol. 2020 Jan;41(1):165-174. doi: 10.1007/s00246-019-02240-x. Epub 2019 Nov 11.
Pediatr Cardiol. 2020.
PMID: 31712860
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Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome.
Veenin K, Wattanasirichaigoon D, Suktitipat B, Noojarern S, Lertrit P, Tim-Aroon T, Kaewsutthi S, Treepongkaruna S.
Veenin K, et al. Among authors: noojarern s.
Front Pediatr. 2022 May 24;10:876436. doi: 10.3389/fped.2022.876436. eCollection 2022.
Front Pediatr. 2022.
PMID: 35685918
Free PMC article.
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MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.
Thongpradit S, Jinawath N, Javed A, Noojarern S, Khongkraparn A, Tim-Aroon T, Lertsukprasert K, Suktitipat B, Jensen LT, Wattanasirichaigoon D.
Thongpradit S, et al. Among authors: noojarern s.
Sci Rep. 2020 Jul 29;10(1):12712. doi: 10.1038/s41598-020-69633-4.
Sci Rep. 2020.
PMID: 32728090
Free PMC article.
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Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1.
Pongmee P, Wittayakornrerk S, Lekwuttikarn R, Pakdeeto S, Watcharakuldilok P, Prempunpong C, Tim-Aroon T, Puttanapitak C, Wattanasoontornsakul P, Junhasavasdikul T, Wongkittichote P, Noojarern S, Wattanasirichaigoon D.
Pongmee P, et al. Among authors: noojarern s.
Front Genet. 2022 Apr 1;13:847150. doi: 10.3389/fgene.2022.847150. eCollection 2022.
Front Genet. 2022.
PMID: 35432467
Free PMC article.
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DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.
Sorapipatcharoen K, Tim-Aroon T, Mahachoklertwattana P, Chantratita W, Iemwimangsa N, Sensorn I, Panthan B, Jiaranai P, Noojarern S, Khlairit P, Pongratanakul S, Suprasongsin C, Korwutthikulrangsri M, Sriphrapradang C, Poomthavorn P.
Sorapipatcharoen K, et al. Among authors: noojarern s.
Endocr Connect. 2020 Nov;9(11):1121-1134. doi: 10.1530/EC-20-0411.
Endocr Connect. 2020.
PMID: 33310921
Free PMC article.
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A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.
Noojarern S, Tim-Aroon T, Anurat K, Phetthong T, Khongkraparn A, Wattanasirichaigoon D.
Noojarern S, et al.
Am J Med Genet A. 2024 Apr 29:e63639. doi: 10.1002/ajmg.a.63639. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38682877
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