Publication A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
Publication Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Publication Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
Publication Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity.
Publication Associations between ethnicity, social contact, and pneumococcal carriage three years post-PCV10 in Fiji.
Publication Clinical practice guidelines in pediatric anesthesia: What constitutes high-quality guidance?
Publication Can you see what I see? Assessing brain maturation and injury in preterm and term neonates.
