Urreizti, Roser

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

Urreizti, R., Asteggiano, C., Cozar, M., Frank, N., Vilaseca, M. A., Grinberg, D., & Balcells, S. (2006) · Human Mutation

Folate and B Vitamins ResearchMetabolism and Genetic Disorders

Cited by 23

Expanding the phenotypic spectrum of TRAF7-related cardiac, facial, and digital anomalies with developmental delay: report of 11 new cases and literature review

Palma-Milla, C., Prat-Planas, A., Soengas-Gonda, E., Centeno-Pla, M., Sánchez-Pozo, J., Lazaro-Rodriguez, I., Quesada-Espinosa, J. F., Arteche-Lopez, A., Olival, J., Pacio-Miguez, M., et al. (2024) · Pediatric Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 4