Jaime Sánchez del Pozo

Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy

B. Ezquieta, E. Maroto, E. Guillén-Navarro, 2012 .

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

P. Lapunzina, E. Guillén-Navarro, E. Barroso, 2014, European Journal of Human Genetics.

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Lago, I. Mahillo, B. Gener, 2022, medRxiv.

New dental findings in the median cleft facial syndrome

Luis Alberto Bravo González, Jaime Sánchez del Pozo, M. R. Maroto, 2005 .

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24

F. Martínez-Azorín, J. Cruz-Rojo, Jaime Sánchez del Pozo, 2018, American journal of medical genetics. Part A.