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Sabina Barresi

Showing results (51-60 of 90) with videos related to

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Brain Pathology (Zurich, Switzerland)|December 30, 2020
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal disseminationSabrina Rossi, Sabina Barresi, Isabella Giovannoni, et al.
Neurogenetics|April 13, 2011
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletionGinevra Zanni, Sabina Barresi, Lorena Travaglini, et al.
Neuropathology and Applied Neurobiology|March 18, 2022
Paediatric astroblastoma-like neuroepithelial tumour of the spinal cord with a MAMLD1-BEND2 rearrangementSabrina Rossi, Sabina Barresi, Giovanna Stefania Colafati, et al.
American Journal of Medical Genetics. Part A|February 17, 2026
First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the YoungSelene Cipri, Antonella Cacchione, Emanuele Agolini, et al.
Human Molecular Genetics|March 17, 2018
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathyAntonella Sferra, Fabiana Fattori, Teresa Rizza, et al.
Human Mutation|August 21, 2015
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal DysplasiaGinevra Zanni, Vera M Kalscheuer, Andreas Friedrich, et al.
Genes|July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the LiteratureGabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Virchows Archiv : an International Journal of Pathology|October 6, 2025
Superficially located CIC::DUX4-rearranged sarcomas in children: insights from a long-term survival case seriesGina Del Vecchio, Rita Alaggio, Alessandra Stracuzzi, et al.
The Journal of Pathology|April 17, 2024
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumorsMarialetizia Motta, Sabina Barresi, Simone Pizzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 24, 2016
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxiaLorena Travaglini, Marta Nardella, Emanuele Bellacchio, et al.
Pageof 9

Showing results (51-60 of 90) with videos related to

Sort By:
Pageof 9
Brain Pathology (Zurich, Switzerland)|December 30, 2020
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal disseminationSabrina Rossi, Sabina Barresi, Isabella Giovannoni, et al.
Neurogenetics|April 13, 2011
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletionGinevra Zanni, Sabina Barresi, Lorena Travaglini, et al.
Neuropathology and Applied Neurobiology|March 18, 2022
Paediatric astroblastoma-like neuroepithelial tumour of the spinal cord with a MAMLD1-BEND2 rearrangementSabrina Rossi, Sabina Barresi, Giovanna Stefania Colafati, et al.
American Journal of Medical Genetics. Part A|February 17, 2026
First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the YoungSelene Cipri, Antonella Cacchione, Emanuele Agolini, et al.
Human Molecular Genetics|March 17, 2018
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathyAntonella Sferra, Fabiana Fattori, Teresa Rizza, et al.
Human Mutation|August 21, 2015
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal DysplasiaGinevra Zanni, Vera M Kalscheuer, Andreas Friedrich, et al.
Genes|July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the LiteratureGabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Virchows Archiv : an International Journal of Pathology|October 6, 2025
Superficially located CIC::DUX4-rearranged sarcomas in children: insights from a long-term survival case seriesGina Del Vecchio, Rita Alaggio, Alessandra Stracuzzi, et al.
The Journal of Pathology|April 17, 2024
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumorsMarialetizia Motta, Sabina Barresi, Simone Pizzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 24, 2016
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxiaLorena Travaglini, Marta Nardella, Emanuele Bellacchio, et al.
Pageof 9