Chin HL - Search Results

1

Non-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene.

Dashraath P, Lim KMX, Chin HL, Sidek A, Lian DWQ, Gosavi A, Koh PL, Biswas A, Goh DLM. Dashraath P, et al. Among authors: chin hl. Lancet. 2023 Jul 8;402(10396):141. doi: 10.1016/S0140-6736(23)01141-8. Lancet. 2023. PMID: 37422302 No abstract available.

2

Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease.

Chin HL, Lee LY, Koh PL. Chin HL, et al. J Pediatr Hematol Oncol. 2019 Jan;41(1):e51-e53. doi: 10.1097/MPH.0000000000001151. J Pediatr Hematol Oncol. 2019. PMID: 29668551

3

Covert Ehlers-Danlos syndrome in pregnancy.

Dashraath P, Choo SN, Lin H, Chin HL, Su LL, Rauff M, Choolani M. Dashraath P, et al. Among authors: chin hl. Lancet Rheumatol. 2022 Oct;4(10):e738. doi: 10.1016/S2665-9913(21)00214-9. Epub 2021 Aug 17. Lancet Rheumatol. 2022. PMID: 38265969 No abstract available.

4

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: chin hl, chin axy. Front Neurol. 2022 Oct 12;13:997551. doi: 10.3389/fneur.2022.997551. eCollection 2022. Front Neurol. 2022. PMID: 36313509 Free PMC article. Review.

5

Pitfalls in clinical genetics.

Chin HL, Goh DLM. Chin HL, et al. 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.

6

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. 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.

7

Genetics in Ischemic Stroke: Current Perspectives and Future Directions.

Zhang K, Loong SSE, Yuen LZH, Venketasubramanian N, Chin HL, Lai PS, Tan BYQ. Zhang K, et al. Among authors: chin hl. J Cardiovasc Dev Dis. 2023 Dec 13;10(12):495. doi: 10.3390/jcdd10120495. J Cardiovasc Dev Dis. 2023. PMID: 38132662 Free PMC article. Review.

8

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. 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

9

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.

Tan SML, Ong CC, Tan KB, Chin HL, Paliwal PR, Ng KWP, Lin W. Tan SML, et al. Among authors: chin hl. Int Heart J. 2021;62(1):186-192. doi: 10.1536/ihj.20-354. Int Heart J. 2021. PMID: 33518658 Free article.

10

A clinical approach to diagnosis and management of mitochondrial myopathies.

Chin HL, Lai PS, Tay SKH. Chin HL, et al. Neurotherapeutics. 2024 Jan;21(1):e00304. doi: 10.1016/j.neurot.2023.11.001. Epub 2023 Dec 19. Neurotherapeutics. 2024. PMID: 38241155 Free PMC article. Review.

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