Stephen T S Lam
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Explore the profile of Stephen T S Lam including associated specialties, affiliations and a list of published articles.
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29
Citations
185
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Recent Articles
1.
Chan Y, Yuen-Ting C, Sin C, Ma E, Lam S, Yeung S, et al.
Lung Cancer
. 2024 Nov;
197:107996.
PMID: 39490205
Background: Metabolic re-wiring with preferential fatty acid oxidation has been observed in lung cancer cells. Whether the use of trimetazidine, an anti-anginal agent that inhibits fatty acid oxidation, alters clinical...
2.
So P, Luk H, Cheung K, Hui W, Chung M, Mak A, et al.
Prenat Diagn
. 2021 Jun;
41(9):1089-1100.
PMID: 34185329
Objectives: Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to...
3.
So P, Luk H, Yu K, Cheng S, Hau E, Ho S, et al.
Am J Med Genet A
. 2020 Dec;
185(3):675-686.
PMID: 33314698
Kabuki syndrome (OMIM #147920 and 300867) is a rare genetic disorder characterized by a distinctive facial gestalt, intellectual disability and multiple congenital anomalies. We summarized the clinical features and molecular...
4.
Yu K, Luk H, Leung G, Mak C, Cheng S, Hau E, et al.
Am J Med Genet C Semin Med Genet
. 2019 Mar;
181(2):208-217.
PMID: 30896080
RASopathies are a group of genetic disorders due to dysregulation of the RAS-MAPK signaling pathway, which is important in regulating cell growth, proliferation, and differentiation. These include Noonan syndrome (NS),...
5.
Kwok Y, Wong K, Lo F, Kong G, Moore J, Wu S, et al.
Clin Chim Acta
. 2016 Mar;
456:137-143.
PMID: 26947966
Background: Sizing of FMR1 trinucleotide repeats in the clinical laboratory requires the use of capillary sequencer by PCR, or by a labor intensive measurement using Southern blot method. Our aim...
6.
Tsoi H, Yu A, Chen Z, Ng N, Chan A, Yuen L, et al.
J Med Genet
. 2014 Jul;
51(9):590-5.
PMID: 25062847
Background: Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders characterised by neurological deficits in the cerebellum. At present, there is no cure for SCAs....
7.
Liu A, Chow P, Lee P, Mok G, Tang W, Lau E, et al.
Eur J Med Genet
. 2014 Apr;
57(6):306-11.
PMID: 24721633
22q11.2 deletion syndrome (22q11.2DS) is a multi-systemic disorder with high phenotypic variability. Under-diagnosis in adults is common and recognition of facial dysmorphic features can be affected by age and ethnicity....
8.
Luk H, Lo I, Fu K, Lui C, Tong T, Chan D, et al.
Hong Kong Med J
. 2013 Dec;
19(6):556-9.
PMID: 24310666
Despite the advances in the understanding of the molecular basis for oculopharyngeal muscular dystrophy in the last decade, it remains an underdiagnosed disease, especially among the Chinese. In the presence...
9.
Luk H, Lo I, Yu K, Tong T, Lam S
Hong Kong Med J
. 2013 Jun;
19(3):276.e3-4.
PMID: 23732439
No abstract available.
10.
Luk H, Lo I, Lai C, Ma L, Tong T, Chan D, et al.
Hong Kong Med J
. 2013 Mar;
19(2):182-5.
PMID: 23535681
With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular muscle (CFEOM) is an example. It is characterised...