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Chloe M Mak

Showing results (11-20 of 22) with videos related to

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Clinica Chimica Acta; International Journal of Clinical Chemistry|May 19, 2009
A fast modified protocol for random-access ultra-high density whole-genome scan: a tool for personalized genomic medicine, positional mapping, and cytogenetic analysisKin-Chong Lau, Chloe M Mak, Kwok-Yin Leung, et al.
Pediatric Neurology|April 18, 2020
Reduction in Myoclonus and Ataxia Following the Use of Perampanel in Patient With Sialidosis Type 1Enoch C T So, Chloe M Mak, Grace S F Ng, et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi|April 10, 2014
A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiencyL K Lee, K M Cheung, W W Cheng, et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi|December 8, 2011
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patientsChloe M Mak, K Y Chan, Eric K C Yau, et al.
Cureus|March 21, 2025
Views of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong KongChloe M Mak, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|October 31, 2007
Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong ChineseChloe M Mak, Yok-Lam Kwong, Ching-Wan Lam, et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi|August 7, 2013
A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variantC K Ching, Chloe M Mak, K M Au, et al.
Journal of Child Neurology|September 9, 2010
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiencyWai-Lan Yeung, Virginia C N Wong, Kwok-Yin Chan, et al.
Cureus|June 17, 2024
Dried Blood Spot Postmortem Metabolic Autopsy With Genotype Validation for Sudden Unexpected Deaths in Infancy and Childhood in Hong KongLing Yin Hung, Chloe M Mak, Ka Chung Foo, et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi|January 30, 2014
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosisHencher H C Lee, K H Poon, C K Lai, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 19, 2009
A fast modified protocol for random-access ultra-high density whole-genome scan: a tool for personalized genomic medicine, positional mapping, and cytogenetic analysisKin-Chong Lau, Chloe M Mak, Kwok-Yin Leung, et al.
Pediatric Neurology|April 18, 2020
Reduction in Myoclonus and Ataxia Following the Use of Perampanel in Patient With Sialidosis Type 1Enoch C T So, Chloe M Mak, Grace S F Ng, et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi|April 10, 2014
A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiencyL K Lee, K M Cheung, W W Cheng, et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi|December 8, 2011
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patientsChloe M Mak, K Y Chan, Eric K C Yau, et al.
Cureus|March 21, 2025
Views of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong KongChloe M Mak, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|October 31, 2007
Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong ChineseChloe M Mak, Yok-Lam Kwong, Ching-Wan Lam, et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi|August 7, 2013
A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variantC K Ching, Chloe M Mak, K M Au, et al.
Journal of Child Neurology|September 9, 2010
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiencyWai-Lan Yeung, Virginia C N Wong, Kwok-Yin Chan, et al.
Cureus|June 17, 2024
Dried Blood Spot Postmortem Metabolic Autopsy With Genotype Validation for Sudden Unexpected Deaths in Infancy and Childhood in Hong KongLing Yin Hung, Chloe M Mak, Ka Chung Foo, et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi|January 30, 2014
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosisHencher H C Lee, K H Poon, C K Lai, et al.
Pageof 3