Lam STS - Search Results

1

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. Among authors: lam sts. 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

2

Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

Tong TM, Hau EW, Lo IF, Chan DH, Lam ST. Tong TM, et al. Chin Med J (Engl). 2005 Sep 20;118(18):1499-506. Chin Med J (Engl). 2005. PMID: 16232326

3

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

Yu KPT, Luk HM, Leung GKC, Mak CCY, Cheng SSW, Hau EWL, Chan DKH, Lam STS, Tong TMF, Chung BHY, Lo IFM. Yu KPT, et al. Among authors: lam sts. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):208-217. doi: 10.1002/ajmg.c.31692. Epub 2019 Mar 21. Am J Med Genet C Semin Med Genet. 2019. PMID: 30896080

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. Among authors: lam sts. Prenat Diagn. 2021 Aug;41(9):1089-1100. doi: 10.1002/pd.5998. Epub 2021 Jul 3. Prenat Diagn. 2021. PMID: 34185329 Review.

5

XX-agonadism in a fetus with multiple congenital anomalies.

Woo HH, Lo IF, Tse HY, Lam ST, Tang CH. Woo HH, et al. Am J Med Genet A. 2004 Apr 1;126A(1):104-5. doi: 10.1002/ajmg.a.20554. Am J Med Genet A. 2004. PMID: 15039981 Review.

6

Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.

Luk HM, Lo IFM, Lai CWS, Yeung WL, Lam STS. Luk HM, et al. Among authors: lam sts. Clin Dysmorphol. 2012 Apr;21(2):64-68. doi: 10.1097/MCD.0b013e328350509b. Clin Dysmorphol. 2012. PMID: 22258436 Review.

7

Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.

Luk HM, Lo IF, Lai CW, Ma LC, Tong TM, Chan DH, Lam ST. Luk HM, et al. Hong Kong Med J. 2013 Apr;19(2):182-5. Hong Kong Med J. 2013. PMID: 23535681 Free article.

8

Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong.

Luk HM, Lo IF, Fu KH, Lui CH, Tong TM, Chan DH, Lam ST. Luk HM, et al. Hong Kong Med J. 2013 Dec;19(6):556-9. doi: 10.12809/hkmj133739. Hong Kong Med J. 2013. PMID: 24310666 Free article.

9

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.

Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY. Tsoi H, et al. J Med Genet. 2014 Sep;51(9):590-5. doi: 10.1136/jmedgenet-2014-102333. Epub 2014 Jul 25. J Med Genet. 2014. PMID: 25062847 Free PMC article.

10

Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.

Yau EK, Lo IF, Lam ST. Yau EK, et al. Hong Kong Med J. 2004 Feb;10(1):22-7. Hong Kong Med J. 2004. PMID: 14967851 Free article.

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