Royal Women's Hospital
10 papers found
Analysis of epigenetic changes in survivors of preterm birth reveals the effect of gestational age and evidence for a long term legacy
Amplitude-Integrated Electroencephalography in Newborns with Inborn Errors of Metabolism
Use of amplitude integrated electroencephalography (aEEG) in patients with inborn errors of metabolism – A new tool for the metabolic geneticist
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
Neuronal migration abnormality in peroxisomal bifunctional enzyme defect
Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome.
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
Increased very long chain fatty acids in patients on a ketogenic diet: A cause of diagnostic confusion
Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination
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