Publication Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Publication Variant nonketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Publication White Matter Changes in Patients with Parkinson's Disease Carrying Small CGG Expansion FMR1 Alleles: A Pilot Study.
