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Sabina Barresi

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Epilepsy Research|March 18, 2014
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)Ginevra Zanni, Sabina Barresi, Roni Cohen, et al.
American Journal of Medical Genetics. Part A|May 29, 2019
POGZ-related epilepsy: Case report and review of the literatureAlessandro Ferretti, Sabina Barresi, Marina Trivisano, et al.
Clinical Genetics|August 27, 2019
The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathiesEmilia Stellacci, Gian M Moneta, Alessandro Bruselles, et al.
Journal of Pediatric Hematology/Oncology|May 22, 2024
A Novel NUTM1-NSMCE2 Fusion Gene in a Pediatric Chest NUT CarcinomaFrancesco De Leonardis, Vittorio Greco Miani, Silvia Vallese, et al.
Genes, Chromosomes & Cancer|May 27, 2021
A novel BRD4-LEUTX fusion in a pediatric sarcoma with epithelioid morphology and diffuse S100 expressionSabina Barresi, Isabella Giovannoni, Sabrina Rossi, et al.
Parkinsonism & Related Disorders|October 20, 2018
Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonismFilippo Manti, Francesca Nardecchia, Sabina Barresi, et al.
Plos One|October 22, 2025
Germinal center trajectories and transcriptional signatures define CLL subtypes and their pathway regulatorsAhmed Mohamed, Luca Giudice, José Basílio, et al.
Virchows Archiv : an International Journal of Pathology|November 1, 2025
SOX11 is frequently expressed in ETV6::NTRK3-rearranged infantile fibrosarcoma and congenital mesoblastic nephromaFaizan Malik, Katelyn S Provine, Selene C Koo, et al.
Clinical Genetics|January 27, 2019
Expanding the clinical spectrum associated with PACS2 mutationsMaria L Dentici, Sabina Barresi, Marcello Niceta, et al.
Neurogenetics|August 27, 2013
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3Ginevra Zanni, Chiara Scotton, Chiara Passarelli, et al.
Pageof 9

Showing results (11-20 of 90) with videos related to

Sort By:
Pageof 9
Epilepsy Research|March 18, 2014
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)Ginevra Zanni, Sabina Barresi, Roni Cohen, et al.
American Journal of Medical Genetics. Part A|May 29, 2019
POGZ-related epilepsy: Case report and review of the literatureAlessandro Ferretti, Sabina Barresi, Marina Trivisano, et al.
Clinical Genetics|August 27, 2019
The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathiesEmilia Stellacci, Gian M Moneta, Alessandro Bruselles, et al.
Journal of Pediatric Hematology/Oncology|May 22, 2024
A Novel NUTM1-NSMCE2 Fusion Gene in a Pediatric Chest NUT CarcinomaFrancesco De Leonardis, Vittorio Greco Miani, Silvia Vallese, et al.
Genes, Chromosomes & Cancer|May 27, 2021
A novel BRD4-LEUTX fusion in a pediatric sarcoma with epithelioid morphology and diffuse S100 expressionSabina Barresi, Isabella Giovannoni, Sabrina Rossi, et al.
Parkinsonism & Related Disorders|October 20, 2018
Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonismFilippo Manti, Francesca Nardecchia, Sabina Barresi, et al.
Plos One|October 22, 2025
Germinal center trajectories and transcriptional signatures define CLL subtypes and their pathway regulatorsAhmed Mohamed, Luca Giudice, José Basílio, et al.
Virchows Archiv : an International Journal of Pathology|November 1, 2025
SOX11 is frequently expressed in ETV6::NTRK3-rearranged infantile fibrosarcoma and congenital mesoblastic nephromaFaizan Malik, Katelyn S Provine, Selene C Koo, et al.
Clinical Genetics|January 27, 2019
Expanding the clinical spectrum associated with PACS2 mutationsMaria L Dentici, Sabina Barresi, Marcello Niceta, et al.
Neurogenetics|August 27, 2013
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3Ginevra Zanni, Chiara Scotton, Chiara Passarelli, et al.
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