Ho SK - Search Results

1

Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years.

Ho SK, Luk HM, Ng SY, Yu KP, Cheng SS, Ng PP, Mok MT, Hau EW, Lo IF. Ho SK, et al. Eur J Med Genet. 2022 Apr;65(4):104474. doi: 10.1016/j.ejmg.2022.104474. Epub 2022 Feb 28. Eur J Med Genet. 2022. PMID: 35240321

2

Mowat-Wilson syndrome in a Chinese population: A case series.

Ho S, Luk HM, Chung BH, Fung JL, Mak HH, Lo IFM. Ho S, et al. Am J Med Genet A. 2020 Jun;182(6):1336-1341. doi: 10.1002/ajmg.a.61557. Epub 2020 Mar 20. Am J Med Genet A. 2020. PMID: 32196960

3

Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.

So PL, Luk HM, Yu KPT, Cheng SSW, Hau EWL, Ho SKL, Lam STS, Lo IFM. So PL, et al. Am J Med Genet A. 2021 Mar;185(3):675-686. doi: 10.1002/ajmg.a.62003. Epub 2020 Dec 13. Am J Med Genet A. 2021. PMID: 33314698

4

Prenatal phenotype of Kabuki syndrome: A case series and literature review.

So PL, Luk HM, Cheung KW, Hui W, Chung MY, Mak ASL, Lok WY, Yu KPT, Cheng SSW, Hau EWL, Ho S, Lam STS, Lo IFM. So PL, et al. Prenat Diagn. 2021 Aug;41(9):1089-1100. doi: 10.1002/pd.5998. Epub 2021 Jul 3. Prenat Diagn. 2021. PMID: 34185329 Review.

5

CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.

Ho S, Tsang MH, Fung JL, Huang H, Chow CB, Cheng SS, Luk HM, Chung BH, Lo IF. Ho S, et al. Am J Med Genet A. 2022 Jan;188(1):130-137. doi: 10.1002/ajmg.a.62504. Epub 2021 Sep 24. Am J Med Genet A. 2022. PMID: 34558805

6

Extending the phenotype of DeSanto-Shinawi syndrome: A case report and literature review.

Ho S, Luk HM, Lo IFM. Ho S, et al. Am J Med Genet A. 2022 Mar;188(3):984-990. doi: 10.1002/ajmg.a.62571. Epub 2021 Nov 19. Am J Med Genet A. 2022. PMID: 34797027 Review.

7

The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review.

Ho S, Luk HM, Lo IFM. Ho S, et al. Am J Med Genet A. 2022 May;188(5):1626-1629. doi: 10.1002/ajmg.a.62646. Epub 2022 Jan 9. Am J Med Genet A. 2022. PMID: 35001526 Review.

8

KBG syndrome in a Chinese population: A case series.

Ho S, Luk HM, Lo IFM. Ho S, et al. Am J Med Genet A. 2022 Jun;188(6):1693-1699. doi: 10.1002/ajmg.a.62688. Epub 2022 Feb 17. Am J Med Genet A. 2022. PMID: 35174959

9

Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.

Ng SY, Luk HM, Hau EW, Cheng SS, Yu KP, Ho S, Mok MT, Lo IF. Ng SY, et al. Eur J Med Genet. 2022 Oct;65(10):104573. doi: 10.1016/j.ejmg.2022.104573. Epub 2022 Jul 31. Eur J Med Genet. 2022. PMID: 35918040

10

Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.

Ho SKL, Ng SYL, Yung TK, Mok MTS, Yiu WC, Cheng HHY, Cheng SSW, Luk HM, Lo IFM, Kan ASY. Ho SKL, et al. Am J Med Genet A. 2024 Sep;194(9):e63657. doi: 10.1002/ajmg.a.63657. Epub 2024 May 15. Am J Med Genet A. 2024. PMID: 38747677

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