Koh AL - Search Results

1

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.

2

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.

Koh AL, Tan ES, Brett MS, Lai AHM, Jamuar SS, Ng I, Tan EC. Koh AL, et al. Mol Genet Genomic Med. 2019 Apr;7(4):e00581. doi: 10.1002/mgg3.581. Epub 2019 Feb 19. Mol Genet Genomic Med. 2019. PMID: 30784236 Free PMC article.

3

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

4

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.

5

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.

6

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

7

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.

8

Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.

Tzen EY, Lim JY, Cheah SM, Choo JTL, Kam S, Ng ZM, Thomas B, Jamuar S, Koh AL, Tan EC. Tzen EY, et al. Among authors: koh al. Mol Syndromol. 2023 Feb;14(1):21-29. doi: 10.1159/000525434. Epub 2022 Jul 21. Mol Syndromol. 2023. PMID: 36777711 Free PMC article.

9

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

10

To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.

Heng TYJ, Ow JR, Koh AL, Lim JSC, Ong CBK, Goh JCY, Lim JY, Chiou FK, Jamuar SS. Heng TYJ, et al. Among authors: koh al. Clin Dysmorphol. 2024 Jan 1;33(1):43-49. doi: 10.1097/MCD.0000000000000475. Epub 2023 Oct 13. Clin Dysmorphol. 2024. PMID: 37865865

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