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Silvia Russo

Showing results (41-50 of 159) with videos related to

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Epilepsy & Behavior : E&B|December 8, 2007
Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literatureMaria Pintaudi, Maria Giuseppina Baglietto, Roberto Gaggero, et al.
Nature Genetics|April 11, 2006
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutationsAntonio Musio, Angelo Selicorni, Maria Luisa Focarelli, et al.
Gene|April 28, 2012
Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literatureMaria Paola Recalcati, Melissa Bellini, Lorenzo Norsa, et al.
The Journal of Pediatrics|July 4, 2016
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening ProtocolAlessandro Mussa, Cristina Molinatto, Giuseppina Baldassarre, et al.
Research in Developmental Disabilities|August 16, 2014
Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scaleRosa Angela Fabio, Barbara Colombo, Silvia Russo, et al.
Biomedicines|April 16, 2020
PBMC of Multiple Sclerosis Patients Show Deregulation of OPA1 Processing Associated with Increased ROS and PHB2 Protein LevelsDomenico De Rasmo, Anna Ferretta, Silvia Russo, et al.
BMC Medical Genetics|April 16, 2004
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central ItalyMaria Rosaria D'Apice, Stefano Gambardella, Mario Bengala, et al.
American Journal of Medical Genetics. Part A|December 6, 2011
Medical care of adolescents and women with Rett syndrome: an Italian studyAglaia Vignoli, Francesca La Briola, Angela Peron, et al.
Molecular Cytogenetics|April 4, 2015
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndromeMilena Crippa, Daniela Rusconi, Chiara Castronovo, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Clinical differences in monozygotic twins with Rett syndrome: case report and systematic reviewSilvia Boeri, Maria Piai, Silvia Russo, et al.
Pageof 16

Showing results (41-50 of 159) with videos related to

Sort By:
Pageof 16
Epilepsy & Behavior : E&B|December 8, 2007
Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literatureMaria Pintaudi, Maria Giuseppina Baglietto, Roberto Gaggero, et al.
Nature Genetics|April 11, 2006
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutationsAntonio Musio, Angelo Selicorni, Maria Luisa Focarelli, et al.
Gene|April 28, 2012
Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literatureMaria Paola Recalcati, Melissa Bellini, Lorenzo Norsa, et al.
The Journal of Pediatrics|July 4, 2016
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening ProtocolAlessandro Mussa, Cristina Molinatto, Giuseppina Baldassarre, et al.
Research in Developmental Disabilities|August 16, 2014
Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scaleRosa Angela Fabio, Barbara Colombo, Silvia Russo, et al.
Biomedicines|April 16, 2020
PBMC of Multiple Sclerosis Patients Show Deregulation of OPA1 Processing Associated with Increased ROS and PHB2 Protein LevelsDomenico De Rasmo, Anna Ferretta, Silvia Russo, et al.
BMC Medical Genetics|April 16, 2004
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central ItalyMaria Rosaria D'Apice, Stefano Gambardella, Mario Bengala, et al.
American Journal of Medical Genetics. Part A|December 6, 2011
Medical care of adolescents and women with Rett syndrome: an Italian studyAglaia Vignoli, Francesca La Briola, Angela Peron, et al.
Molecular Cytogenetics|April 4, 2015
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndromeMilena Crippa, Daniela Rusconi, Chiara Castronovo, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Clinical differences in monozygotic twins with Rett syndrome: case report and systematic reviewSilvia Boeri, Maria Piai, Silvia Russo, et al.
Pageof 16