Showing results 1 to 5 of 5
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
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing.
Proceeding/Conference:15th Asian Oceanian Congress Of Child Neurology 19-21 Sept 2019 Kuala Lumpur.
Neuromuscular involvement in children with mitochondrial disease: A single centre experience
Proceeding/Conference:14th Asian and Oceanian Congress of Child Neurology
Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation
Journal:Child Neurology Open