Best Works of John Christodoulou (geneticist) · YYNN

John Christodoulou (geneticist)

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Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

scientific article published on July 2010

Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders

scientific article published in March 2002

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

scientific article published on 20 July 2009