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Angela Peron

Showing results (41-50 of 79) with videos related to

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Genes & Genomics|January 27, 2025
Correction to: A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severityGiada Moresco, Ornella Rondinone, Alessia Mauri, et al.
Genes & Genomics|October 29, 2024
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severityGiada Moresco, Ornella Rondinone, Alessia Mauri, et al.
Movement Disorders Clinical Practice|October 24, 2024
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental DisorderLuigi M Romito, Fabiana Colucci, Valentina Leta, et al.
Neurogenetics|September 17, 2020
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in femalesMarcello Scala, Evelien Zonneveld-Huijssoon, Marianna Brienza, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Glioblastoma multiforme in a child with tuberous sclerosis complexAglaia Vignoli, Elena Lesma, Rosa Maria Alfano, et al.
Epilepsy & Behavior : E&B|June 16, 2018
Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizuresMiriam Nella Savini, Alessia Mingarelli, Aglaia Vignoli, et al.
International Journal of Molecular Sciences|November 26, 2022
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 VariantsSara Perego, Valentina Alari, Gianluca Pietra, et al.
American Journal of Medical Genetics. Part A|May 3, 2026
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in ChildhoodSabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, et al.
Neuroradiology|June 18, 2018
Rhinencephalon changes in tuberous sclerosis complexRenzo Manara, Davide Brotto, Samuela Bugin, et al.
European Journal of Medical Genetics|February 13, 2018
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2Angela Peron, Aglaia Vignoli, Francesca La Briola, et al.
Pageof 8

Showing results (41-50 of 79) with videos related to

Sort By:
Pageof 8
Genes & Genomics|January 27, 2025
Correction to: A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severityGiada Moresco, Ornella Rondinone, Alessia Mauri, et al.
Genes & Genomics|October 29, 2024
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severityGiada Moresco, Ornella Rondinone, Alessia Mauri, et al.
Movement Disorders Clinical Practice|October 24, 2024
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental DisorderLuigi M Romito, Fabiana Colucci, Valentina Leta, et al.
Neurogenetics|September 17, 2020
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in femalesMarcello Scala, Evelien Zonneveld-Huijssoon, Marianna Brienza, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Glioblastoma multiforme in a child with tuberous sclerosis complexAglaia Vignoli, Elena Lesma, Rosa Maria Alfano, et al.
Epilepsy & Behavior : E&B|June 16, 2018
Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizuresMiriam Nella Savini, Alessia Mingarelli, Aglaia Vignoli, et al.
International Journal of Molecular Sciences|November 26, 2022
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 VariantsSara Perego, Valentina Alari, Gianluca Pietra, et al.
American Journal of Medical Genetics. Part A|May 3, 2026
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in ChildhoodSabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, et al.
Neuroradiology|June 18, 2018
Rhinencephalon changes in tuberous sclerosis complexRenzo Manara, Davide Brotto, Samuela Bugin, et al.
European Journal of Medical Genetics|February 13, 2018
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2Angela Peron, Aglaia Vignoli, Francesca La Briola, et al.
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