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Angela Peron

Showing results (51-60 of 79) with videos related to

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Endocrine Connections|August 30, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literatureAlessandro Barbato, Giulia Gori, Michele Sacchini, et al.
Pathologica|April 9, 2026
Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel <i>ENPP1</i> variantAnna Maria Buccoliero, Giorgia Mancano, Maria Luce Cioni, et al.
Plos One|May 13, 2016
Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for LymphangioleiomyomatosisFabiano Di Marco, Silvia Terraneo, Gianluca Imeri, et al.
Genes|April 30, 2021
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the LiteratureIlaria Catusi, Maria Garzo, Anna Paola Capra, et al.
American Journal of Medical Genetics. Part A|November 6, 2025
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental PhenotypeDebora Vergani, Lucia Tiberi, Annarita Giliberti, et al.
Scientific Reports|July 4, 2024
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insightsGiacomo M Bacci, Elisa Marziali, Sara Bargiacchi, et al.
Epilepsia|May 15, 2012
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literatureAglaia Vignoli, Renato Borgatti, Angela Peron, et al.
International Journal of Molecular Sciences|July 27, 2019
Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like PhenotypesFrancesca Cogliati, Valentina Giorgini, Maura Masciadri, et al.
Epilepsy Research|November 7, 2016
Epilepsy in ring chromosome 20 syndromeAglaia Vignoli, Francesca Bisulli, Francesca Darra, et al.
International Journal of Molecular Sciences|January 27, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter StudyBenedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, et al.
Pageof 8

Showing results (51-60 of 79) with videos related to

Sort By:
Pageof 8
Endocrine Connections|August 30, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literatureAlessandro Barbato, Giulia Gori, Michele Sacchini, et al.
Pathologica|April 9, 2026
Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel <i>ENPP1</i> variantAnna Maria Buccoliero, Giorgia Mancano, Maria Luce Cioni, et al.
Plos One|May 13, 2016
Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for LymphangioleiomyomatosisFabiano Di Marco, Silvia Terraneo, Gianluca Imeri, et al.
Genes|April 30, 2021
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the LiteratureIlaria Catusi, Maria Garzo, Anna Paola Capra, et al.
American Journal of Medical Genetics. Part A|November 6, 2025
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental PhenotypeDebora Vergani, Lucia Tiberi, Annarita Giliberti, et al.
Scientific Reports|July 4, 2024
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insightsGiacomo M Bacci, Elisa Marziali, Sara Bargiacchi, et al.
Epilepsia|May 15, 2012
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literatureAglaia Vignoli, Renato Borgatti, Angela Peron, et al.
International Journal of Molecular Sciences|July 27, 2019
Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like PhenotypesFrancesca Cogliati, Valentina Giorgini, Maura Masciadri, et al.
Epilepsy Research|November 7, 2016
Epilepsy in ring chromosome 20 syndromeAglaia Vignoli, Francesca Bisulli, Francesca Darra, et al.
International Journal of Molecular Sciences|January 27, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter StudyBenedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, et al.
Pageof 8