Tabarki, Brahim

A gene encoding a putative FAD-dependent l -2-hydroxyglutarate dehydrogenase is mutated in l -2-hydroxyglutaric aciduria

Rzem, R., Veiga-da-Cunha, M., Noël, G., Goffette, S., Nassogne, M.-C., Tabarki, B., Schöller, C., Marquardt, T., Vikkula, M., & Van Schaftingen, E. (2004) · Proceedings of the National Academy of Sciences

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 195

Expanding the genetic heterogeneity of intellectual disability

Anazi, S., Maddirevula, S., Salpietro, V., Asi, Y. T., Alsahli, S., Alhashem, A., Shamseldin, H. E., AlZahrani, F., Patel, N., Ibrahim, N., et al. (2017) · Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 160

Severe CNS involvement in WWOX mutations: Description of five new cases

Tabarki, B., AlHashem, A., AlShahwan, S., Alkuraya, F. S., Gedela, S., & Zuccoli, G. (2015) · American Journal of Medical Genetics Part A

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 34