Publication Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan
Publication Widespread decreased grey and white matter in paediatric obsessive-compulsive disorder (OCD): a voxel-based morphometric MRI study
Publication Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Publication Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools.
Publication Predictors of Failure of Awake Regional Anesthesia for Neonatal Hernia Repair: Data from the General Anesthesia Compared to Spinal Anesthesia Study--Comparing Apnea and Neurodevelopmental Outcomes.
Publication First Real-Time Visualization of a Spontaneous Pneumothorax Developing in a Preterm Lamb Using Electrical Impedance Tomography.