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Neurology. Genetics|December 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term OutcomesFilippo Manti, Giacomina Ricciardi, Francesca Nardecchia, et al.JIMD Reports|September 9, 2020
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in JordanCarla Carducci, Wajdi Amayreh, Haneen Ababneh, et al.Human Mutation|November 8, 2021
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordanceSara Nuovo, Valentina Baglioni, Roberta De Mori, et al.Journal of Inherited Metabolic Disease|July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH geneLaura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.Pageof 3