Publication A case study of the resolution of paediatric dysphagia following brainstem injury: clinical and instrumental assessment.
Publication A child with Klinefelter syndrome and both IgE-mediated food allergy and low proportion of naive Treg.
Publication A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
Publication A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Publication Abundant LacZ activity in the absence of Cre expression in the normal and inflamed synovium of adult Col2a1-Cre; ROSA26R(LacZ) reporter mice.
Publication Adaptation of a mitochondrial complex III assay for automation: examination of reproducibility and precision.