Stephen S. Lam
Hong Kong, HCW, Hong Kong Special Administrative Region
Last Updated: 09/26/2026
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Found 8 publications
Prenatal phenotype of Kabuki syndrome: A case series and literature review.
Journal: Prenatal diagnosis
Published: January 17, 2021
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: September 26, 2018
Validation of a robust PCR-based assay for quantifying fragile X CGG repeats.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: February 04, 2016
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.
Journal: Journal of medical genetics
Published: July 27, 2014
Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong.
Journal: Hong Kong medical journal = Xianggang yi xue za zhi
Published: December 07, 2013
A young woman with mucocutaneous pigmentation and intestinal polyps.
Journal: Hong Kong medical journal = Xianggang yi xue za zhi
Published: June 05, 2013
Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.
Journal: Hong Kong medical journal = Xianggang yi xue za zhi
Published: March 29, 2013
Prader--Willi syndrome: 16-year experience in Hong Kong.
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: June 13, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026