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A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.
Genes (Basel). 2022 Oct 19;13(10):1900. doi: 10.3390/genes13101900.
Genes (Basel). 2022.
PMID: 36292785
Free PMC article.
Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole‑exome sequencing.
Koay BT, Chiow MY, Ismail J, Fahmy NK, Yee SY, Mustafa N, Arip M, Ripen AM, Mohamad SB.
Koay BT, et al. Among authors: chiow my.
Mol Med Rep. 2022 Dec;26(6):365. doi: 10.3892/mmr.2022.12882. Epub 2022 Oct 25.
Mol Med Rep. 2022.
PMID: 36281931
Free PMC article.
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Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.
Ripen AM, Chiow MY, Rama Rao PR, Mohamad SB.
Ripen AM, et al. Among authors: chiow my.
Front Immunol. 2021 Nov 4;12:778133. doi: 10.3389/fimmu.2021.778133. eCollection 2021.
Front Immunol. 2021.
PMID: 34804071
Free PMC article.
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A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.
Ripen AM, Chear CT, Baharin MF, Nallusamy R, Chan KC, Kassim A, Choo CM, Wong KJ, Fong SM, Tan KK, Nachiappan JP, Teo KR, Chiow MY, Hishamshah M, Ghani H, Muralitharan RR, Mohamad SB.
Ripen AM, et al. Among authors: chiow my.
Clin Exp Immunol. 2021 Nov;206(2):119-128. doi: 10.1111/cei.13626. Epub 2021 Jul 13.
Clin Exp Immunol. 2021.
PMID: 34060650
Free PMC article.
Clinical Trial.
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Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency.
Mat Ripen A, Ghani H, Chear CT, Chiow MY, Syed Yahya SNH, Kassim A, Mohamad SB.
Mat Ripen A, et al. Among authors: chiow my.
SAGE Open Med. 2020 May 22;8:2050312120922652. doi: 10.1177/2050312120922652. eCollection 2020.
SAGE Open Med. 2020.
PMID: 32547748
Free PMC article.
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