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Plos One|October 15, 2021
New genes involved in Angelman syndrome-like: Expanding the genetic spectrumCinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, et al.
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology|December 21, 2018
Epigenetic signature for attention-deficit/hyperactivity disorder: identification of miR-26b-5p, miR-185-5p, and miR-191-5p as potential biomarkers in peripheral blood mononuclear cellsCristina Sánchez-Mora, María Soler Artigas, Iris Garcia-Martínez, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 9, 2019
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblastsCora Blázquez-Bermejo, Lidia Carreño-Gago, David Molina-Granada, et al.
Familial Cancer|April 3, 2017
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteriaMaribel González-Acosta, Jesús Del Valle, Matilde Navarro, et al.
EMBO Reports|February 19, 2026
Epigenetic regulation of serine biosynthesis by PHF8 during neurogenesisMarta H Artes, Simona Iacobucci, María J Barallobre, et al.
Clinical Chemistry|December 6, 2020
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer PatientsLidia Feliubadaló, Alejandro Moles-Fernández, Marta Santamariña-Pena, et al.
The Journal of Molecular Diagnostics : JMD|October 21, 2023
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical AnalysisLuz-Marina Porras, Natàlia Padilla, Alejandro Moles-Fernández, et al.
International Journal of Cancer|June 4, 2017
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysisGardenia M Vargas-Parra, Maribel González-Acosta, Bryony A Thompson, et al.
Orphanet Journal of Rare Diseases|July 26, 2018
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsSandra Brasil, Fátima Leal, Ana Vega, et al.
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