Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Natàlia Padilla

Showing results (1-10 of 18) with videos related to

Pageof 2
Sort By:
Human Genetics|July 24, 2024
QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learningSelen Ozkan, Natàlia Padilla, Xavier de la Cruz
International Journal of Molecular Sciences|July 2, 2021
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 VariantsSelen Özkan, Natàlia Padilla, Xavier de la Cruz
Human Mutation|July 12, 2016
The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid SubstitutionsCasandra Riera, Natàlia Padilla, Xavier de la Cruz
BMC Genomics|August 17, 2017
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidenceElena Álvarez de la Campa, Natàlia Padilla, Xavier de la Cruz
International Journal of Molecular Sciences|July 29, 2023
Choosing Variant Interpretation Tools for Clinical Applications: Context MattersJosu Aguirre, Natàlia Padilla, Selen Özkan, et al.
Nucleic Acids Research|April 29, 2017
SeMPI: a genome-based secondary metabolite prediction and identification web serverPaul F Zierep, Natàlia Padilla, Dimitar G Yonchev, et al.
Frontiers in Immunology|February 21, 2020
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic LymphohistiocytosisLaura Viñas-Giménez, Natàlia Padilla, Laura Batlle-Masó, et al.
Human Mutation|May 22, 2019
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challengeNatàlia Padilla, Alejandro Moles-Fernández, Casandra Riera, et al.
Journal of Clinical Immunology|March 31, 2016
Novel Mutations Causing C5 Deficiency in Three North-African FamiliesRoger Colobran, Clara Franco-Jarava, Andrea Martín-Nalda, et al.
Plos One|October 15, 2021
New genes involved in Angelman syndrome-like: Expanding the genetic spectrumCinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Human Genetics|July 24, 2024
QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learningSelen Ozkan, Natàlia Padilla, Xavier de la Cruz
International Journal of Molecular Sciences|July 2, 2021
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 VariantsSelen Özkan, Natàlia Padilla, Xavier de la Cruz
Human Mutation|July 12, 2016
The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid SubstitutionsCasandra Riera, Natàlia Padilla, Xavier de la Cruz
BMC Genomics|August 17, 2017
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidenceElena Álvarez de la Campa, Natàlia Padilla, Xavier de la Cruz
International Journal of Molecular Sciences|July 29, 2023
Choosing Variant Interpretation Tools for Clinical Applications: Context MattersJosu Aguirre, Natàlia Padilla, Selen Özkan, et al.
Nucleic Acids Research|April 29, 2017
SeMPI: a genome-based secondary metabolite prediction and identification web serverPaul F Zierep, Natàlia Padilla, Dimitar G Yonchev, et al.
Frontiers in Immunology|February 21, 2020
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic LymphohistiocytosisLaura Viñas-Giménez, Natàlia Padilla, Laura Batlle-Masó, et al.
Human Mutation|May 22, 2019
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challengeNatàlia Padilla, Alejandro Moles-Fernández, Casandra Riera, et al.
Journal of Clinical Immunology|March 31, 2016
Novel Mutations Causing C5 Deficiency in Three North-African FamiliesRoger Colobran, Clara Franco-Jarava, Andrea Martín-Nalda, et al.
Plos One|October 15, 2021
New genes involved in Angelman syndrome-like: Expanding the genetic spectrumCinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, et al.
Pageof 2