Mario Cazalla

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Genes.

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

A. Afenjar, P. Lapunzina, J. Nevado, 2023, Genes.

Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency

P. Lapunzina, J. Nevado, N. Gallego, 2023, Clinical genetics.

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Clinical genetics.

Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature

P. Lapunzina, P. Escribano-Subías, P. Arias, 2023, Genes.