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Sabina Barresi

Showing results (31-40 of 90) with videos related to

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Pathology, Research and Practice|July 30, 2021
DICER1-associated malignancies mimicking germ cell neoplasms: Report of two cases and review of the literatureSabrina Rossi, Sabina Barresi, Alessandra Stracuzzi, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 23, 2012
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasisGinevra Zanni, Tito Calì, Vera M Kalscheuer, et al.
Gene|July 13, 2017
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndromeMaria Lisa Dentici, Sabina Barresi, Marta Nardella, et al.
Genes, Chromosomes & Cancer|January 28, 2025
Novel PDGFRB Gene Fusions in Two Cases of Infantile MyofibromatosisFederica Boccia, Sabina Barresi, Silvia Vallese, et al.
Diagnostics (Basel, Switzerland)|February 25, 2022
Molecular Landscape in Infant High-Grade Gliomas: A Single Center ExperienceValentina Di Ruscio, Andrea Carai, Giada Del Baldo, et al.
BMC Pediatrics|March 14, 2020
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature reviewMarcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, et al.
Genes|June 2, 2021
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane EyedropsDaniele Castiglia, Paola Fortugno, Angelo Giuseppe Condorelli, et al.
Italian Journal of Pediatrics|August 4, 2017
A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencingMarina Macchiaiolo, Sabina Barresi, Francesco Cecconi, et al.
Acta Neuropathologica Communications|March 8, 2025
DNA methylation profiling from cerebrospinal fluid as a diagnostic tool for pineoblastomaCeleste Antonacci, Luana Abballe, Sara Patrizi, et al.
Frontiers in Oncology|February 4, 2026
Metastatic extra-axial medulloblastoma involving the trigeminal nerve: a rare prognostic entity with a comprehensive literature reviewFederica D'Antonio, Andrea Carai, Giada Del Baldo, et al.
Pageof 9

Showing results (31-40 of 90) with videos related to

Sort By:
Pageof 9
Pathology, Research and Practice|July 30, 2021
DICER1-associated malignancies mimicking germ cell neoplasms: Report of two cases and review of the literatureSabrina Rossi, Sabina Barresi, Alessandra Stracuzzi, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 23, 2012
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasisGinevra Zanni, Tito Calì, Vera M Kalscheuer, et al.
Gene|July 13, 2017
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndromeMaria Lisa Dentici, Sabina Barresi, Marta Nardella, et al.
Genes, Chromosomes & Cancer|January 28, 2025
Novel PDGFRB Gene Fusions in Two Cases of Infantile MyofibromatosisFederica Boccia, Sabina Barresi, Silvia Vallese, et al.
Diagnostics (Basel, Switzerland)|February 25, 2022
Molecular Landscape in Infant High-Grade Gliomas: A Single Center ExperienceValentina Di Ruscio, Andrea Carai, Giada Del Baldo, et al.
BMC Pediatrics|March 14, 2020
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature reviewMarcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, et al.
Genes|June 2, 2021
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane EyedropsDaniele Castiglia, Paola Fortugno, Angelo Giuseppe Condorelli, et al.
Italian Journal of Pediatrics|August 4, 2017
A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencingMarina Macchiaiolo, Sabina Barresi, Francesco Cecconi, et al.
Acta Neuropathologica Communications|March 8, 2025
DNA methylation profiling from cerebrospinal fluid as a diagnostic tool for pineoblastomaCeleste Antonacci, Luana Abballe, Sara Patrizi, et al.
Frontiers in Oncology|February 4, 2026
Metastatic extra-axial medulloblastoma involving the trigeminal nerve: a rare prognostic entity with a comprehensive literature reviewFederica D'Antonio, Andrea Carai, Giada Del Baldo, et al.
Pageof 9