Publication The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
Publication A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Publication Luteinizing hormone and follicle-stimulating hormone levels in extreme prematurity: development of reference intervals.
Publication Australasian Guideline (2nd Edition): an Annex to the CLSI and UK Guidelines for the Performance of the Sweat Test for the Diagnosis of Cystic Fibrosis.
Publication The epileptic network of Lennox-Gastaut syndrome: Cortically driven and reproducible across age.
