Goh DL - Search Results

1

A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.

Chin HL, Goh DL, Wang FS, Tay SKH, Heng CK, Donnini C, Baruffini E, Pines O. Chin HL, et al. Among authors: goh dl. J Mol Med (Berl). 2019 Nov;97(11):1557-1566. doi: 10.1007/s00109-019-01834-5. Epub 2019 Sep 16. J Mol Med (Berl). 2019. PMID: 31529142

2

Identification and characterization of novel mouse PDE4D isoforms: molecular cloning, subcellular distribution and detection of isoform-specific intracellular localization signals.

Chandrasekaran A, Toh KY, Low SH, Tay SK, Brenner S, Goh DL. Chandrasekaran A, et al. Among authors: goh dl. Cell Signal. 2008 Jan;20(1):139-53. doi: 10.1016/j.cellsig.2007.10.003. Epub 2007 Oct 12. Cell Signal. 2008. PMID: 18006274

3

Identification and molecular characterization of a novel PDE4D11 cAMP-specific phosphodiesterase isoform.

Lynex CN, Li Z, Chen ML, Toh KY, Low RW, Goh DL, Tay SK. Lynex CN, et al. Among authors: goh dl. Cell Signal. 2008 Dec;20(12):2247-55. doi: 10.1016/j.cellsig.2008.08.020. Epub 2008 Sep 4. Cell Signal. 2008. PMID: 18804162

4

Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease.

Chin HL, Aw MM, Quak SH, Huang J, Hart CE, Prabhakaran K, Goh DL. Chin HL, et al. Among authors: goh dl. Mol Genet Metab Rep. 2015 Jul 12;4:49-52. doi: 10.1016/j.ymgmr.2015.06.003. eCollection 2015 Sep. Mol Genet Metab Rep. 2015. PMID: 26937410 Free PMC article.

5

Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature.

Wang FS, Goh DLM, Ong HT. Wang FS, et al. J Med Case Rep. 2018 Jul 15;12(1):208. doi: 10.1186/s13256-018-1750-8. J Med Case Rep. 2018. PMID: 30007405 Free PMC article. Review.

6

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.

Zhao P, Liu ID, Hodgin JB, Benke PI, Selva J, Torta F, Wenk MR, Endrizzi JA, West O, Ou W, Tang E, Goh DL, Tay SK, Yap HK, Loh A, Weaver N, Sullivan B, Larson A, Cooper MA, Alhasan K, Alangari AA, Salim S, Gumus E, Chen K, Zenker M, Hildebrandt F, Saba JD. Zhao P, et al. Among authors: goh dl. J Inherit Metab Dis. 2020 Sep;43(5):1131-1142. doi: 10.1002/jimd.12238. Epub 2020 May 4. J Inherit Metab Dis. 2020. PMID: 32233035 Free PMC article.

7

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.

Bhatia NS, Lim JY, Bonnard C, Kuan JL, Brett M, Wei H, Cham B, Chin H, Bosso-Lefevre C, Dharuman P, Escande-Beillard N, Devasia AG, Goh CYJ, Kam S, Liew WK, Liew WK, Lin G, Jain K, Ng AY, Subramanian D, Xie M, Tan YM, Tawari NR, Tiang Z, Ting TW, Tohari S, Tong CK, Lezhava A, Ng SB, Law HY, Venkatesh B, Tomar S, Sethi R, Tan G, Shanmugasundaram A, Goh DL, Lai PS, Lai A, Tan ES, Ng I, Reversades B, Tan EC, Foo R, Jamuar SS; SUREKids Working Group. Bhatia NS, et al. Among authors: goh dl. Arch Dis Child. 2021 Jan;106(1):31-37. doi: 10.1136/archdischild-2020-319180. Epub 2020 Aug 20. Arch Dis Child. 2021. PMID: 32819910

8

Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.

Ng KWP, Chin HL, Chin AXY, Goh DL. Ng KWP, et al. Among authors: goh dl. Front Neurol. 2022 Oct 12;13:997551. doi: 10.3389/fneur.2022.997551. eCollection 2022. Front Neurol. 2022. PMID: 36313509 Free PMC article. Review.

9

Pitfalls in clinical genetics.

Chin HL, Goh DLM. Chin HL, et al. Among authors: goh dlm. Singapore Med J. 2023 Jan;64(1):53-58. doi: 10.4103/singaporemedj.SMJ-2021-329. Singapore Med J. 2023. PMID: 36722517 Free PMC article. Review.

10

Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.

Chin HL, Benton MC, Yang L, Poon KS, Tan KML, Jamuar SS, Foo R, Law HY, Goh DL, Chong SS, de Sessions PF. Chin HL, et al. Among authors: goh dl. Mol Genet Genomic Med. 2024 Jan;12(1):e2285. doi: 10.1002/mgg3.2285. Epub 2023 Sep 23. Mol Genet Genomic Med. 2024. PMID: 37740604 Free PMC article.

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