Items where authors include "Nava, C."

Article

Rius, R. orcid.org/0000-0002-9871-3126, Blakes, A.J.M. orcid.org/0000-0002-0260-7020, Chen, Y. orcid.org/0000-0001-5593-6920 et al. (95 more authors) (2026) Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Nature Genetics. pp. 1-13. ISSN 1061-4036

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Dingemans, A.J.M., Albaba, S. et al. (36 more authors) (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29 (4). pp. 625-636. ISSN 1018-4813

Ito, Y., Carss, K.J., Duarte, S.T. et al. (18 more authors) (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. The American Journal of Human Genetics, 103 (1). pp. 144-153. ISSN 0002-9297