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Alessandro De Luca

Showing results (151-160 of 192) with videos related to

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Diagnostics (Basel, Switzerland)|August 19, 2020
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the LiteratureMariachiara Lodi, Luigi Boccuto, Andrea Carai, et al.
Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.
Journal of Clinical Medicine|February 27, 2026
Analysis of a Real-World Population Participating in a Cardiac Rehabilitation Program: Cognitive Impairment, Functional Capacity, and Therapy TitrationNicola Virtuoso, Francesca Palmieri, Francesco Loria, et al.
The Lancet. Neurology|September 24, 2018
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysisCaterina Fusilli, Simone Migliore, Tommaso Mazza, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 13, 2006
A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cellsRobert B West, Brian P Rubin, Melinda A Miller, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
Cell Death & Disease|April 27, 2019
Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 ratsCristina Zalfa, Laura Rota Nodari, Elena Vacchi, et al.
Human Molecular Genetics|February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsCarmela Fusco, Grazia Nardella, Rita Fischetto, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variantAndrea Gazzin, Federico Fornari, Marcello Niceta, et al.
Human Molecular Genetics|April 25, 2015
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the ciliumJosé A Caparrós-Martín, Alessandro De Luca, François Cartault, et al.
Pageof 20

Showing results (151-160 of 192) with videos related to

Sort By:
Pageof 20
Diagnostics (Basel, Switzerland)|August 19, 2020
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the LiteratureMariachiara Lodi, Luigi Boccuto, Andrea Carai, et al.
Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.
Journal of Clinical Medicine|February 27, 2026
Analysis of a Real-World Population Participating in a Cardiac Rehabilitation Program: Cognitive Impairment, Functional Capacity, and Therapy TitrationNicola Virtuoso, Francesca Palmieri, Francesco Loria, et al.
The Lancet. Neurology|September 24, 2018
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysisCaterina Fusilli, Simone Migliore, Tommaso Mazza, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 13, 2006
A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cellsRobert B West, Brian P Rubin, Melinda A Miller, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
Cell Death & Disease|April 27, 2019
Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 ratsCristina Zalfa, Laura Rota Nodari, Elena Vacchi, et al.
Human Molecular Genetics|February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsCarmela Fusco, Grazia Nardella, Rita Fischetto, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variantAndrea Gazzin, Federico Fornari, Marcello Niceta, et al.
Human Molecular Genetics|April 25, 2015
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the ciliumJosé A Caparrós-Martín, Alessandro De Luca, François Cartault, et al.
Pageof 20