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(2022) Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders. Orphanet Journal of Rare Diseases. p. 18.
(2022) Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders. Orphanet Journal of Rare Diseases. ISSN 17501172 (ISSN)
(2020) Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation. Genetics in Medicine. pp. 1589-1597. ISSN 1098-3600