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Silvia Russo

Showing results (61-70 of 159) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 6, 2016
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndromeAnna Cereda, Milena Mariani, Paola Rebora, et al.
International Journal of Molecular Sciences|April 6, 2018
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse ModelSara Guzzetti, Luciano Calzari, Lucia Buccarello, et al.
Journal of Pediatric Genetics|April 3, 2024
Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental DelayHanae Daha Belghiti, Meriame Abbassi, Hanane Sayel, et al.
Epigenetics|December 3, 2016
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domainsDavid Monk, Joannella Morales, Johan T den Dunnen, et al.
European Journal of Human Genetics : EJHG|July 13, 2022
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 alleleAlessandra Sironi, Ilaria Bestetti, Maura Masciadri, et al.
Journal of Human Genetics|December 15, 2015
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disabilitySilvia Moncini, Paola Castronovo, Alessandra Murgia, et al.
Prenatal Diagnosis|June 25, 2026
Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study)Melissa Connolly, Louise McClelland, Pierpaola Tannorella, et al.
Psychiatry Research|July 9, 2010
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3AGuia Guffanti, Luisa Strik Lievers, Maria Teresa Bonati, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2007
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBLFaustina Lalatta, Silvia Russo, Barbara Gentilin, et al.
Brain Sciences|January 21, 2022
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic FeaturesRoberta Epifanio, Roberto Giorda, Maria Carolina Merlano, et al.
Pageof 16

Showing results (61-70 of 159) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 6, 2016
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndromeAnna Cereda, Milena Mariani, Paola Rebora, et al.
International Journal of Molecular Sciences|April 6, 2018
Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse ModelSara Guzzetti, Luciano Calzari, Lucia Buccarello, et al.
Journal of Pediatric Genetics|April 3, 2024
Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental DelayHanae Daha Belghiti, Meriame Abbassi, Hanane Sayel, et al.
Epigenetics|December 3, 2016
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domainsDavid Monk, Joannella Morales, Johan T den Dunnen, et al.
European Journal of Human Genetics : EJHG|July 13, 2022
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 alleleAlessandra Sironi, Ilaria Bestetti, Maura Masciadri, et al.
Journal of Human Genetics|December 15, 2015
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disabilitySilvia Moncini, Paola Castronovo, Alessandra Murgia, et al.
Prenatal Diagnosis|June 25, 2026
Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study)Melissa Connolly, Louise McClelland, Pierpaola Tannorella, et al.
Psychiatry Research|July 9, 2010
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3AGuia Guffanti, Luisa Strik Lievers, Maria Teresa Bonati, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2007
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBLFaustina Lalatta, Silvia Russo, Barbara Gentilin, et al.
Brain Sciences|January 21, 2022
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic FeaturesRoberta Epifanio, Roberto Giorda, Maria Carolina Merlano, et al.
Pageof 16