Showing results 1 to 8 of 8
A fatal case of COQ7-associated primary coenzyme Q10 deficiency
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update
Journal:American Journal of Medical Genetics Part A
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients
Journal:Molecular Genetics & Genomic Medicine
Facioscapulohumeral dystrophy (FSHD) type 1 – From infantile to late adult onset
Proceeding/Conference:Joint Annual Scientific Meeting 2020 jointly organized by the Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, Hong Kong College of Paediatric Nursing.
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing.
Proceeding/Conference:Asian Oceanian Congress of Child Neurology
Neuromuscular involvement in children with mitochondrial disease: A single centre experience
Proceeding/Conference:14th Asian and Oceanian Congress of Child Neurology
Prevalence and healthcare utilization of rare neurological diseases in Hong Kong: 2014–2018
Journal:European Journal of Neurology
Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation
Journal:Child Neurology Open