María
López Martínez
Ikertzailea 2009-2024 tartean
Virginia
Perez Grijalba
Virginia Perez Grijalba-rekin lankidetzan egindako argitalpenak (2)
2020
-
A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data
Clinical Case Reports, Vol. 8, Núm. 12, pp. 3184-3188
2019
-
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients
Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 11