Maina Kava

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Lisa G. Riley, Mark J. Cowley, Velimir Gayevskiy et al. · Genetics in Medicine · 2020 · 94 citations · Full text

Down syndrome:

Maina Kava, Milind S. Tullu, Mamta Muranjan et al. · Archives of Medical Research · 2004 · 86 citations

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Rocío Rius, Nicole J. Van Bergen, Alison G. Compton et al. · Journal of Clinical Medicine · 2019 · 31 citations · Full text

Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises

Christina Y. Miyake, Erica Julianne Lay, Cheyenne M. Beach et al. · Heart Rhythm · 2022 · 29 citations · Full text

Metabolic Syndrome, Cardiomyopathy, Heart Failure +12

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

Nitamarie Vorster, Kerry Evans, Nada Murphy et al. · Neuromuscular Disorders · 2019 · 25 citations

Rehabilitation Robotics, Physical Activity, Assistive Technology +11