Barth, Magalie

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Rice, G. I., Meyzer, C., Bouazza, N., Hully, M., Boddaert, N., Semeraro, M., Zeef, L. A. H., Rozenberg, F., Bondet, V., Duffy, D., et al. (2018) · New England Journal of Medicine

HIV/AIDS drug development and treatmentImmunodeficiency and Autoimmune Disorders

Cited by 153

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., et al. (2013) · The American Journal of Human Genetics

Metabolism and Genetic DisordersMitochondrial Function and Pathology

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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

Le Roux, M., Barth, M., Gueden, S., Desbordes de Cepoy, P., Aeby, A., Vilain, C., Hirsch, E., de Saint Martin, A., Portes, V. D., Lesca, G., et al. (2021) · European Journal of Paediatric Neurology

Epilepsy research and treatmentMigraine and Headache Studies

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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Isidor, B., Ebstein, F., Hurst, A., Vincent, M., Bader, I., Rudy, N. L., Cogne, B., Mayr, J., Brehm, A., Bupp, C., et al. (2022) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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