Koh AL - Search Results

1

Genomic sequencing: ending the diagnostic odyssey for a child with microcephaly and dystonia with a perioperative challenge.

Cheng DT, Yeo TH, Seng MS, Teoh OH, Lee S, Koh AL. Cheng DT, et al. Among authors: koh al. Singapore Med J. 2024 Jun 28. doi: 10.4103/singaporemedj.SMJ-2023-134. Online ahead of print. Singapore Med J. 2024. PMID: 38949060 Free article. No abstract available.

2

Therapeutics in paediatric genetic diseases: Current and future landscape.

Koh AL, Jamuar SS. Koh AL, et al. Singapore Med J. 2023 Jan;64(1):7-16. doi: 10.4103/singaporemedj.SMJ-2021-376. Singapore Med J. 2023. PMID: 36722512 Free PMC article. Review.

3

Alternating hemiplegia of childhood presenting as recurrent apnoea in a term newborn infant.

Koh NYT, Lim JYX, Kam S, Visruthan NK, Koh AL, Lee JH, Thomas T. Koh NYT, et al. Among authors: koh al. Ann Acad Med Singap. 2021 Feb;50(2):174-176. doi: 10.47102/annals-acadmedsg.2020414. Ann Acad Med Singap. 2021. PMID: 33733261 Free article. No abstract available.

4

Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.

Nazeha N, Koh AL, Kam S, Lim JY, Goh DLM, Jamuar SS, Graves N. Nazeha N, et al. Among authors: koh al. Am J Med Genet A. 2022 Dec;188(12):3482-3491. doi: 10.1002/ajmg.a.62974. Epub 2022 Sep 25. Am J Med Genet A. 2022. PMID: 36156406

5

The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.

Yap JYC, Lim JY, Bhatia A, Tan VKJ, Koo S, Nishimura G, Moosa S, Koh AL, Tan EC, Fong N, Jamuar SS. Yap JYC, et al. Among authors: koh al. Am J Med Genet A. 2024 Feb;194(2):358-362. doi: 10.1002/ajmg.a.63420. Epub 2023 Oct 6. Am J Med Genet A. 2024. PMID: 37799085

6

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

Tan EC, Chia SY, Rafi'ee K, Lee SX, Kwek ABE, Tan SH, Ng VWL, Wei H, Koo S, Koh AL, Koh MJ. Tan EC, et al. Among authors: koh al, koh mj. Mol Genet Genomic Med. 2022 Jan;10(1):e1848. doi: 10.1002/mgg3.1848. Epub 2021 Dec 26. Mol Genet Genomic Med. 2022. PMID: 34957706 Free PMC article.

7

Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?

Koh AL, Bonnard C, Lim JY, Liew WK, Thoon KC, Thomas T, Ali NAB, Ng AYJ, Tohari S, Phua KB, Venkatesh B, Reversade B, Jamuar SS. Koh AL, et al. Am J Med Genet A. 2020 Sep;182(9):2010-2020. doi: 10.1002/ajmg.a.61758. Epub 2020 Jul 13. Am J Med Genet A. 2020. PMID: 32657013

8

Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome?

Koh AL, Bonnard C, Binte Ali NA, Reversade B, Jamuar S. Koh AL, et al. Am J Med Genet A. 2022 Jan;188(1):384. doi: 10.1002/ajmg.a.62498. Epub 2021 Sep 16. Am J Med Genet A. 2022. PMID: 34528395 No abstract available.

9

Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.

Leow EH, Chong SL, Tan ES, Koh AL, Cham BWM, Yap CJY, Ng YH. Leow EH, et al. Among authors: koh al. Nephrology (Carlton). 2023 Dec;28(12):649-654. doi: 10.1111/nep.14232. Epub 2023 Aug 24. Nephrology (Carlton). 2023. PMID: 37619970 Review.

10

DEGS1 -related leukodystrophy: a clinical report and review of literature.

Wong MST, Thomas T, Lim JY, Kam S, Teo JX, Ching J, Goh CYJ, Jamuar SS, Lim WK, Koh AL. Wong MST, et al. Among authors: koh al. Clin Dysmorphol. 2023 Jul 1;32(3):106-111. doi: 10.1097/MCD.0000000000000457. Epub 2023 May 1. Clin Dysmorphol. 2023. PMID: 37195341 Review.

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