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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
Article de revueGenet Med, 25 (2), 2023.
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development
Article de revueJIMD Rep, 63 (1), 2022.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Article de revueGenet Med, 21 (4), 2019.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Article de revueGenet Med, 21 (8), 2019.
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
Article de revueHum Genet, 137 (11-12), 2018.