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

Isabel Llano

Showing results (31-40 of 50) with videos related to

Pageof 5
Sort By:
International Journal of Dermatology|April 29, 2026
Two Siblings With CD151-Associated Epidermolysis Bullosa Harboring a Novel VariantPatricia Andres-Ibarrola, Jose Maria Villa-Gonzalez, Alberto Garcia-Garcia, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 3, 2020
Influence of spatially segregated IP<sub>3</sub>-producing pathways on spike generation and transmitter release in Purkinje cell axonsLaura C Gomez, Shin-Ya Kawaguchi, Thibault Collin, et al.
Nature Communications|September 2, 2020
Molecular layer interneurons in the cerebellum encode for valence in associative learningMing Ma, Gregory L Futia, Fabio M Simoes de Souza, et al.
BMC Medical Genomics|December 28, 2018
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case reportYerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, et al.
Translational Pediatrics|October 10, 2023
Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromasPiedad Alba-Pavón, Itziar Astigarraga, Lide Alaña, et al.
The Journal of Biological Chemistry|December 5, 2015
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1Yasuko Hirata, Hilde Brems, Mayu Suzuki, et al.
Genes|January 8, 2020
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual DisabilityNekane Ibarluzea, Ana Belén de la Hoz, Olatz Villate, et al.
Plos Genetics|October 13, 2025
Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patientsCaroline E Nunes-Xavier, Mercè Pallarès-Sastre, Ana Rodríguez-Ramos, et al.
Bone|November 26, 2013
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosisAlessandra Pangrazio, Alessandro Puddu, Manuela Oppo, et al.
Clinical and Translational Medicine|January 19, 2021
Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trialArantza Infante, Blanca Gener, Miguel Vázquez, et al.
Pageof 5

Showing results (31-40 of 50) with videos related to

Sort By:
Pageof 5
International Journal of Dermatology|April 29, 2026
Two Siblings With CD151-Associated Epidermolysis Bullosa Harboring a Novel VariantPatricia Andres-Ibarrola, Jose Maria Villa-Gonzalez, Alberto Garcia-Garcia, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 3, 2020
Influence of spatially segregated IP<sub>3</sub>-producing pathways on spike generation and transmitter release in Purkinje cell axonsLaura C Gomez, Shin-Ya Kawaguchi, Thibault Collin, et al.
Nature Communications|September 2, 2020
Molecular layer interneurons in the cerebellum encode for valence in associative learningMing Ma, Gregory L Futia, Fabio M Simoes de Souza, et al.
BMC Medical Genomics|December 28, 2018
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case reportYerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, et al.
Translational Pediatrics|October 10, 2023
Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromasPiedad Alba-Pavón, Itziar Astigarraga, Lide Alaña, et al.
The Journal of Biological Chemistry|December 5, 2015
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1Yasuko Hirata, Hilde Brems, Mayu Suzuki, et al.
Genes|January 8, 2020
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual DisabilityNekane Ibarluzea, Ana Belén de la Hoz, Olatz Villate, et al.
Plos Genetics|October 13, 2025
Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patientsCaroline E Nunes-Xavier, Mercè Pallarès-Sastre, Ana Rodríguez-Ramos, et al.
Bone|November 26, 2013
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosisAlessandra Pangrazio, Alessandro Puddu, Manuela Oppo, et al.
Clinical and Translational Medicine|January 19, 2021
Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trialArantza Infante, Blanca Gener, Miguel Vázquez, et al.
Pageof 5