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List of works by Sophelia H S Chan

A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35

scientific article published on 17 January 2019

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

scientific article published on 10 November 2017

Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania

scientific article published on 21 January 2020

Congenital muscular dystrophies in China

scientific article published on 06 June 2019

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.

scientific article published on 2 March 2017

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients

scientific article published on 10 March 2020

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

scientific article published on 06 August 2018

Health-related quality of life in Chinese boys with Duchenne muscular dystrophy and their families

scientific article published on 20 June 2019

Knowledge, attitude and ethical consideration of Chinese couples requesting preimplantation genetic testing in Hong Kong

scientific article published on 11 February 2019

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

scientific article published on 29 August 2019

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

scientific article

Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol.

scientific article published on August 2012

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

scientific article published on 01 January 2019

Parental restriction reduces the harmful effects of in-bedroom electronic devices

scientific article published on 29 June 2017

The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes

scientific article published on 30 April 2020

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