E. Gabau Vila

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

P. Striano, L. Bird, D. Chitayat, 2022, Brain : a journal of neurology.

Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases.

L. Monserrat, R. Barriales-Villa, J. P. Trujillo-Quintero, 2021, Revista espanola de cardiologia.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

D. Koboldt, T. Kleefstra, H. van Bokhoven, 2022, American journal of medical genetics. Part A.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.