Results 151 to 152 of about 1,834 (152)

Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy

Molecular Biology Reports, 2012
Mehdi Fakhfakh, Abdelaziz Tlili, Fakhfakh Faiza   +2 more
exaly  

Functional characterization of ALDH7A1 variants in late-onset pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism
Nicole García Tubéns, Kristine Pauly, Michael F. Wempe, Michael Woontner, Curtis Coughlin   +4 more
openaire   +1 more source