Análisis clínicos
Specialty
L. A.
Pérez Jurado
Publications by the researcher in collaboration with L. A. Pérez Jurado (2)
2022
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366
2020
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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268