Showing results 1 to 4 of 4
A fatal case of COQ7-associated primary coenzyme Q10 deficiency
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.
Next generation sequencing in prenatal diagnosis
Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
Journal:npj Genomic Medicine