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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)
(2022) PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy. Annals of Clinical and Translational Neurology. pp. 1345-1358. ISSN 2328-9503