Visualitza per autor "De la Cruz Montserrat, Fco. Xavier"
Ara mostrant els elements 1-9 d 9
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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Porras, Luz-Marina; Moles Fernandez, Alejandro; Santamariña, Marta; Sánchez, Alysson T.; Padilla Sirera, Natàlia; Feliubadaló, Lidia; diez, orland; Gutiérrez-Enríquez, Sara; De la Cruz Montserrat, Fco. Xavier (Elsevier, 2024-01) -
Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis
Viñas Gimenez, Laura; Rincon Perez, Rafael; Colobran Oriol, Roger; Celis, Verónica Paola; Dapena, José Luis; Sayos Ortega, Juan; Martínez Gallo, Mónica; De la Cruz Montserrat, Fco. Xavier (Frontiers Media, 2021-09-23) -
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters
Aguirre, Josu; Padilla Sirera, Natàlia; Ozkan, Selen; Riera, Casandra; Feliubadaló, Lidia; De la Cruz Montserrat, Fco. Xavier (MDPI, 2023-07-24) -
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence
Álvarez de la Crespo, Elena; Padilla Sirera, Natalia; De la Cruz Montserrat, Fco. Xavier (BMC, 2017-08-11) -
Loss of microRNA-135b Enhances Bone Metastasis in Prostate Cancer and Predicts Aggressiveness in Human Prostate Samples
Olivan Riera, Mireia; Garcia Lopez, Marta; Suarez Cabrera, Leticia; Guiu, Marc; Gros, Laura; Mendez Fernández, Olga; Segura Ginard, Miguel; Torres Ramirez, Inés de; Planas Morin, Jacques; Morote Robles, Joan; Santamaria Margalef, Anna; De la Cruz Montserrat, Fco. Xavier (MDPI, 2021-12) -
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Padilla Sirera, Natalia; Cueto Gonzalez, Anna Maria; De la Cruz Montserrat, Fco. Xavier (American Association for the Advancement of Science, 2023-03-10) -
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum
Aguilera, Cinthia; Gabau, Elisabeth; Ramirez-Mallafre, Ariadna; Brun-Gasca, Carme; Dominguez-Carral, Jana; Delgadillo, Veronica; Padilla Sirera, Natalia; De la Cruz Montserrat, Fco. Xavier (Public Library of Science, 2021-10-15) -
The histone demethylase PHF8 regulates astrocyte differentiation and function
Iacobucci, Simona; Padilla Sirera, Natalia; Gabrielli, Martina; Navarro, Claudia; Lombardi, Marta; Vicioso Mantis, Marta; De la Cruz Montserrat, Fco. Xavier (Company of Biologists, 2021-06) -
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants
Padilla Sirera, Natalia; De la Cruz Montserrat, Fco. Xavier; Ozkan, Selen (MDPI, 2021-06)