Publication Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Publication Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
Publication β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles.
Publication An observational study using ultrasound to assess physiological changes following fluid bolus administration in paediatric sepsis in the emergency department.
Publication Association Between Parenting Style and Socio-Emotional and Academic Functioning in Children With and Without ADHD: A Community-Based Study.
Publication Home Transcutaneous Electrical Stimulation Therapy to Treat Children With Anorectal Retention: A Pilot Study.
