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PKS is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associate with neurological…
Numerous studies have observed that a proportion of infants later diagnosed with autism spectrum disorder (ASD) experience accelerated head growth...
Acute rheumatic fever is an autoimmune disorder resulting from Group A Streptococcus pharyngitis or impetigo in children and adolescents, which may e…
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent su…
To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.
of conditions including cerebral palsy, rare disorders like Rett syndrome, developmental coordination
Paediatric Specialist in the Genetic Metabolic Disorders Service at disorders. She is involved in the ongoing clinical component ... special interest…
Parkinson’s disease (PD) is a progressive neurodegenerative disorder in which mechanisms linking metabolic dysregulation to neuronal vulnerability re…
Senior Research Fellow