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Claudio Carta

Showing results (21-30 of 39) with videos related to

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Health Research Policy and Systems|October 17, 2025
Integrative research and innovation strategy for rare diseases. Insights from the 5-year European joint programme on rare diseases, including analysis to inform recommendations for future actionsMaría Del Carmen Sánchez-González, Rodrigo Sarmiento-Suárez, Laura Lee Cellai, et al.
Journal of the Neurological Sciences|July 6, 2015
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibsRaffaella Di Giacopo, Luciano Cianetti, Viviana Caputo, et al.
American Journal of Human Genetics|December 29, 2005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro De Luca, Irene Bottillo, Anna Sarkozy, et al.
American Journal of Human Genetics|January 17, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo, Luciano Cianetti, Marcello Niceta, et al.
Cancer Genetics and Cytogenetics|April 25, 2006
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumorsSimone Martinelli, Claudio Carta, Elisabetta Flex, et al.
Human Mutation|October 21, 2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe Zampino, Francesca Pantaleoni, Claudio Carta, et al.
Journal of Neuromuscular Diseases|October 1, 2025
The FAIR journey of a patient-driven registry: Reflections and practical solutions from the Duchenne Data Platform FAIRification experienceNawel Lalout, Mark D Wilkinson, Dagmar Wandrei, et al.
Frontiers in Molecular Biosciences|May 26, 2023
Resources and tools for rare disease variant interpretationLuana Licata, Allegra Via, Paola Turina, et al.
European Journal of Human Genetics : EJHG|February 4, 2018
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchersSabina Gainotti, Paola Torreri, Chiuhui Mary Wang, et al.
Biomed Research International|December 8, 2017
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web LayerPedro Sernadela, Lorena González-Castro, Claudio Carta, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
Health Research Policy and Systems|October 17, 2025
Integrative research and innovation strategy for rare diseases. Insights from the 5-year European joint programme on rare diseases, including analysis to inform recommendations for future actionsMaría Del Carmen Sánchez-González, Rodrigo Sarmiento-Suárez, Laura Lee Cellai, et al.
Journal of the Neurological Sciences|July 6, 2015
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibsRaffaella Di Giacopo, Luciano Cianetti, Viviana Caputo, et al.
American Journal of Human Genetics|December 29, 2005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro De Luca, Irene Bottillo, Anna Sarkozy, et al.
American Journal of Human Genetics|January 17, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo, Luciano Cianetti, Marcello Niceta, et al.
Cancer Genetics and Cytogenetics|April 25, 2006
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumorsSimone Martinelli, Claudio Carta, Elisabetta Flex, et al.
Human Mutation|October 21, 2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe Zampino, Francesca Pantaleoni, Claudio Carta, et al.
Journal of Neuromuscular Diseases|October 1, 2025
The FAIR journey of a patient-driven registry: Reflections and practical solutions from the Duchenne Data Platform FAIRification experienceNawel Lalout, Mark D Wilkinson, Dagmar Wandrei, et al.
Frontiers in Molecular Biosciences|May 26, 2023
Resources and tools for rare disease variant interpretationLuana Licata, Allegra Via, Paola Turina, et al.
European Journal of Human Genetics : EJHG|February 4, 2018
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchersSabina Gainotti, Paola Torreri, Chiuhui Mary Wang, et al.
Biomed Research International|December 8, 2017
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web LayerPedro Sernadela, Lorena González-Castro, Claudio Carta, et al.
Pageof 4