Lopez, Estelle

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Courcet, J.-B., Faivre, L., Malzac, P., Masurel-Paulet, A., Lopez, E., Callier, P., Lambert, L., Lemesle, M., Thevenon, J., Gigot, N., et al. (2012) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

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Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

Bruel, A.-L., Franco, B., Duffourd, Y., Thevenon, J., Jego, L., Lopez, E., Deleuze, J.-F., Doummar, D., Giles, R. H., Johnson, C. A., et al. (2017) · Journal of Medical Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

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