ELENA
BUENO MARTINEZ
PROFESOR AYUDANTE DOCTOR
Leiden University Medical Center
Leiden, HolandaLeiden University Medical Center-ko ikertzaileekin lankidetzan egindako argitalpenak (2)
2024
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Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338
2022
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Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants
Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334