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Claudia Ciaccio

Showing results (11-20 of 36) with videos related to

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Cytogenetic and Genome Research|February 5, 2020
Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune DiseasesClaudia Ciaccio, Serena Redaelli, Angela Bentivegna, et al.
American Journal of Medical Genetics. Part A|January 21, 2023
Periventricular heterotopia in a male child with USP9X missense variantArianna De Laurentiis, Claudia Ciaccio, Alessandra Erbetta, et al.
Brain Sciences|May 16, 2023
Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper ArmSilvia Maria Marchese, Roberto Esposti, Veronica Farinelli, et al.
Cytogenetic and Genome Research|November 19, 2018
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature ReviewClaudia Ciaccio, Giulietta Scuvera, Arianna Tucci, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Neurological phenotype of Potocki-Lupski syndromeClaudia Ciaccio, Chiara Pantaleoni, Donatella Milani, et al.
Cerebellum (London, England)|August 23, 2024
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New CasesClaudia Ciaccio, Matilde Taddei, Chiara Pantaleoni, et al.
Neuropediatrics|April 14, 2021
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar HypoplasiaClaudia Ciaccio, Emanuela Leonardi, Roberta Polli, et al.
Cerebellum (London, England)|August 15, 2019
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)Claudia Ciaccio, Raffaele Castello, Silvia Esposito, et al.
Psychiatric Genetics|December 12, 2023
22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorderElisa Granocchio, Eleonora Pollina, Marinella De Salvatore, et al.
European Journal of Medical Genetics|December 12, 2018
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experienceClaudia Ciaccio, Veronica Saletti, Stefano D'Arrigo, et al.
Pageof 4

Showing results (11-20 of 36) with videos related to

Sort By:
Pageof 4
Cytogenetic and Genome Research|February 5, 2020
Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune DiseasesClaudia Ciaccio, Serena Redaelli, Angela Bentivegna, et al.
American Journal of Medical Genetics. Part A|January 21, 2023
Periventricular heterotopia in a male child with USP9X missense variantArianna De Laurentiis, Claudia Ciaccio, Alessandra Erbetta, et al.
Brain Sciences|May 16, 2023
Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper ArmSilvia Maria Marchese, Roberto Esposti, Veronica Farinelli, et al.
Cytogenetic and Genome Research|November 19, 2018
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature ReviewClaudia Ciaccio, Giulietta Scuvera, Arianna Tucci, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Neurological phenotype of Potocki-Lupski syndromeClaudia Ciaccio, Chiara Pantaleoni, Donatella Milani, et al.
Cerebellum (London, England)|August 23, 2024
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New CasesClaudia Ciaccio, Matilde Taddei, Chiara Pantaleoni, et al.
Neuropediatrics|April 14, 2021
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar HypoplasiaClaudia Ciaccio, Emanuela Leonardi, Roberta Polli, et al.
Cerebellum (London, England)|August 15, 2019
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)Claudia Ciaccio, Raffaele Castello, Silvia Esposito, et al.
Psychiatric Genetics|December 12, 2023
22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorderElisa Granocchio, Eleonora Pollina, Marinella De Salvatore, et al.
European Journal of Medical Genetics|December 12, 2018
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experienceClaudia Ciaccio, Veronica Saletti, Stefano D'Arrigo, et al.
Pageof 4