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NSD1 mutations generate a genome-wide DNA methylation signature

Nature communications, 2015-12, Vol.6 (1), p.10207-10207, Article 10207

2015

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Severe neonatal manifestations of Costello syndrome

Journal of medical genetics, 2008-03, Vol.45 (3), p.167-171

2008

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Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome

Clinical genetics, 2009-07, Vol.76 (1), p.102-107

2009

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Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series

Hong Kong Medical Journal, 2021-12, Vol.27 (6), p.444-449

2021

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Lessons learnt from a genetic disease registry in Hong Kong

Hong Kong Medical Journal, 2021-06, Vol.27 (3), p.226-228

2021

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Whole exome sequencing for developmental delay and learning difficulties: abridged secondary publication

Hong Kong medical journal = Xianggang yi xue za zhi, 2020-12, Vol.26 Suppl 7 (6), p.4-6

2020

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Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency

Hong Kong medical journal = Xianggang yi xue za zhi, 2010-02, Vol.16 (1), p.59-62

2010

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Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

American journal of human genetics, 1999-12, Vol.65 (6), p.1520-1529

1999

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

Hong Kong medical journal = Xianggang yi xue za zhi, 2004-02, Vol.10 (1), p.22-27

2004

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Chromosomal abnormalities and FMR1 gene premutation in Chinese women with premature menopause

Hong Kong medical journal = Xianggang yi xue za zhi, 2005-08, Vol.11 (4), p.243-250

2005

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Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series

Hong Kong medical journal = Xianggang yi xue za zhi, 2021, Vol.27 (6), p.444-449

2021

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Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong

Hong Kong medical journal = Xianggang yi xue za zhi, 2004-02, Vol.10 (1), p.53-56

2004

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Correlation between the reflux finding score and the reflux symptom index in patients with laryngopharyngeal reflux

Journal of biological regulators and homeostatic agents, 2018-01, Vol.32 (1 Suppl. 2), p.29-31

2018

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Relieving laryngopharingeral reflux (RELIEF) survey in otolaryngology - the viewpoint of the otorhinolaryngologist

Journal of biological regulators and homeostatic agents, 2018-01, Vol.32 (1 Suppl. 2), p.9-19

2018

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Relieving laryngopharingeral reflux (RELIEF) survey in otolaryngology - II the viewpoint of the patient

Journal of biological regulators and homeostatic agents, 2018-01, Vol.32 (1 Suppl. 2), p.21-28

2018

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Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome

Clinical genetics, 2009, Vol.76 (1), p.102-107

2009

Volltextzugriff (PDF)

Severe neonatal manifestations of Costello syndrome

Journal of medical genetics, 2008, Vol.45 (3), p.167-171

2008

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Interstitial dup(1p) with findings of Kabuki make-up syndrome

American journal of medical genetics, 1998-06, Vol.78 (1), p.55-57

1998

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Burton skeletal dysplasia: The second case report

American journal of medical genetics, 1998-09, Vol.79 (3), p.168-171

1998

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Pallister-Killian syndrome: the first reported case in Hong Kong

Zhonghua minguo xiaoerke yixuehui zazhi, 1998-09, Vol.39 (5), p.333

1998

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The structure and variability of Mars upper atmosphere as seen in MAVEN/IUVS dayglow observations

Geophysical research letters, 2015-11, Vol.42 (21), p.9023-9030

2015

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Endovascular Therapy for Stroke Due to Basilar-Artery Occlusion

The New England journal of medicine, 2021-05, Vol.384 (20), p.1910-1920

2021

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Emerging Trends in Global Freshwater Availability

Nature (London), 2018-05, Vol.557 (7707), p.651-659

2018

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Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

Proceedings of the National Academy of Sciences - PNAS, 2008-12, Vol.105 (51), p.20458-20463

2008

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A Century of Change towards Prevention and Minimal Intervention in Cariology

Journal of dental research, 2019-06, Vol.98 (6), p.611-617

2019

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NSD1 mutations generate a genome-wide DNA methylation signature

Severe neonatal manifestations of Costello syndrome

Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome

Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series

Lessons learnt from a genetic disease registry in Hong Kong

Whole exome sequencing for developmental delay and learning difficulties: abridged secondary publication

Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency

Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

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

Chromosomal abnormalities and FMR1 gene premutation in Chinese women with premature menopause

Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series

Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong

Correlation between the reflux finding score and the reflux symptom index in patients with laryngopharyngeal reflux

Relieving laryngopharingeral reflux (RELIEF) survey in otolaryngology - the viewpoint of the otorhinolaryngologist

Relieving laryngopharingeral reflux (RELIEF) survey in otolaryngology - II the viewpoint of the patient

Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome

Severe neonatal manifestations of Costello syndrome

Interstitial dup(1p) with findings of Kabuki make-up syndrome

Burton skeletal dysplasia: The second case report

Pallister-Killian syndrome: the first reported case in Hong Kong

The structure and variability of Mars upper atmosphere as seen in MAVEN/IUVS dayglow observations

Endovascular Therapy for Stroke Due to Basilar-Artery Occlusion

Emerging Trends in Global Freshwater Availability

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

A Century of Change towards Prevention and Minimal Intervention in Cariology

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