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BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

Developmental medicine and child neurology, 2020-09, Vol.62 (9), p.1096-1099

2020

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Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome

Frontiers in neurology, 2022-05, Vol.13, p.853918

2022

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Potential Effects of NPC1L1 Polymorphisms in Protecting against Clinical Disease in a Chinese Family with Sitosterolaemia

Journal of Atherosclerosis and Thrombosis, 2014/09/24, Vol.21(9), pp.989-995

2014

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CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101023, Article 101023

2024

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Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

Journal of human genetics, 2011-08, Vol.56 (8), p.617-621

2011

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Analysis of inborn errors of metabolism： disease spectrum for expanded newborn screening in Hong Kong

Chinese medical journal, 2011-04, Vol.124 (7), p.983-989

2011

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Online Diagnosis System: A webserver for analysis of Sanger sequencing-based genetic testing data

Methods (San Diego, Calif.), 2014-10, Vol.69 (3), p.230-236

2014

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Molecular basis of von Hippel-Lindau syndrome in Chinese patients

Chinese medical journal, 2011-01, Vol.124 (2), p.237-241

2011

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NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome

Clinica chimica acta, 2015-02, Vol.440, p.201-204

2015

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Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study

Clinica chimica acta, 2012-01, Vol.413 (1-2), p.126-130

2012

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A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation [version 1; peer review: 1 approved, 2 approved with reservations]

F1000 research, 2019, Vol.8, p.1612-1612

2019

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Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson’s disease in Chinese children

World journal of pediatrics : WJP, 2013-11, Vol.9 (4), p.361-364

2013

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eP134: Functional characterization of Variants of Uncertain Significance (VUSs) identified in patients with early-life epilepsy in Hong Kong

Genetics in medicine, 2022-03, Vol.24 (3), p.S83-S84

2022

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Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II

Diagnostic molecular pathology, 2010-09, Vol.19 (3), p.184-186

2010

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Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome

Clinica chimica acta, 2006-02, Vol.364 (1), p.256-259

2006

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DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay

Clinica chimica acta, 2007, Vol.375 (1), p.171-172

2007

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Maternally inherited Leigh syndrome: an unusual cause of infantile apnea

Sleep & breathing, 2010-06, Vol.14 (2), p.161-165

2010

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The Online Diagnosis System for sanger sequencing based genetic testing

2014 International Conference on Big Data and Smart Computing (BIGCOMP), 2014, p.47-51

2014

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P2‐280: EARLY‐ONSET DEMENTIA IN CHINESE

Alzheimer's & dementia, 2019-07, Vol.15 (7S_Part_13), p.P693-P693

2019

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EARLY-ONSET DEMENTIA IN CHINESE

Alzheimer's & dementia, 2019-07, Vol.15 (7), p.P693-P693

2019

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Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia

Clinica chimica acta, 2006-12, Vol.374 (1), p.151-152

2006

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BRAT 1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

Developmental medicine and child neurology, 2020-09, Vol.62 (9), p.1096-1099

2020

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In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13

Pathology, 2021-12, Vol.53 (7), p.867-874

2021

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Adverse Effects of Azathioprine in a Child and Her Mother with Eczema

Indian journal of pediatrics, 2018-10, Vol.85 (10), p.918-919

2018

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An unusual case of undescended testis: type II persistent Müllerian duct syndrome

Pathology, 2019-04, Vol.51 (3), p.335-336

2019

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BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome

Potential Effects of NPC1L1 Polymorphisms in Protecting against Clinical Disease in a Chinese Family with Sitosterolaemia

CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

Analysis of inborn errors of metabolism： disease spectrum for expanded newborn screening in Hong Kong

Online Diagnosis System: A webserver for analysis of Sanger sequencing-based genetic testing data

Molecular basis of von Hippel-Lindau syndrome in Chinese patients

NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome

Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study

A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation [version 1; peer review: 1 approved, 2 approved with reservations]

Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson’s disease in Chinese children

eP134: Functional characterization of Variants of Uncertain Significance (VUSs) identified in patients with early-life epilepsy in Hong Kong

Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II

Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome

DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay

Maternally inherited Leigh syndrome: an unusual cause of infantile apnea

The Online Diagnosis System for sanger sequencing based genetic testing

P2‐280: EARLY‐ONSET DEMENTIA IN CHINESE

EARLY-ONSET DEMENTIA IN CHINESE

Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia

BRAT 1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13

Adverse Effects of Azathioprine in a Child and Her Mother with Eczema

An unusual case of undescended testis: type II persistent Müllerian duct syndrome

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