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Sabina Barresi

Showing results (71-80 of 90) with videos related to

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Clinical Genetics|October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndromeMarcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
Frontiers in Oncology|June 3, 2026
Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinomaSelene Cipri, Antonella Cacchione, Annalisa Serra, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|June 16, 2024
Spindle Cell Lesions with Oncogenic EGFR Kinase Domain Aberrations: Expanding the Spectrum of Protein Kinase-Related Mesenchymal TumorsSilvia Vallese, Sabina Barresi, Laura Hiemcke-Jiwa, et al.
Orphanet Journal of Rare Diseases|March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientLydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
Discover Oncology|November 25, 2025
Epigenomic characterization and therapeutic challenges of melanoma arising in giant nevi in pediatric patientsEvelina Miele, Sabrina Rossi, Alessandra Stracuzzi, et al.
Clinical Epigenetics|January 4, 2024
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile populationSara Patrizi, Evelina Miele, Lorenza Falcone, et al.
American Journal of Human Genetics|September 27, 2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyAntonella Sferra, Gilbert Baillat, Teresa Rizza, et al.
HGG Advances|June 27, 2026
Pediatric High-Grade Gliomas and Cancer Predisposition Syndromes: A Retrospective StudySelene Cipri, Giada Del Baldo, Emanuele Agolini, et al.
American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.
Cell Reports|April 29, 2023
Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestationsVanda Friman, Isabella Quinti, Alexey N Davydov, et al.
Pageof 9

Showing results (71-80 of 90) with videos related to

Sort By:
Pageof 9
Clinical Genetics|October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndromeMarcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
Frontiers in Oncology|June 3, 2026
Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinomaSelene Cipri, Antonella Cacchione, Annalisa Serra, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|June 16, 2024
Spindle Cell Lesions with Oncogenic EGFR Kinase Domain Aberrations: Expanding the Spectrum of Protein Kinase-Related Mesenchymal TumorsSilvia Vallese, Sabina Barresi, Laura Hiemcke-Jiwa, et al.
Orphanet Journal of Rare Diseases|March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientLydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
Discover Oncology|November 25, 2025
Epigenomic characterization and therapeutic challenges of melanoma arising in giant nevi in pediatric patientsEvelina Miele, Sabrina Rossi, Alessandra Stracuzzi, et al.
Clinical Epigenetics|January 4, 2024
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile populationSara Patrizi, Evelina Miele, Lorenza Falcone, et al.
American Journal of Human Genetics|September 27, 2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyAntonella Sferra, Gilbert Baillat, Teresa Rizza, et al.
HGG Advances|June 27, 2026
Pediatric High-Grade Gliomas and Cancer Predisposition Syndromes: A Retrospective StudySelene Cipri, Giada Del Baldo, Emanuele Agolini, et al.
American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.
Cell Reports|April 29, 2023
Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestationsVanda Friman, Isabella Quinti, Alexey N Davydov, et al.
Pageof 9