Search research articles
Contact Us
Filters
Showing results (51-60 of 90) with videos related to
Page
of 9
Sort By:
Brain Pathology (Zurich, Switzerland)
|
December 30, 2020
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
Sabrina 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 deletion
Ginevra 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 rearrangement
Sabrina 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 Young
Selene Cipri, Antonella Cacchione, Emanuele Agolini, et al.
Human Molecular Genetics
|
March 17, 2018
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy
Antonella 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 Dysplasia
Ginevra 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 Literature
Gabriele 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 series
Gina 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 tumors
Marialetizia 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 ataxia
Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, et al.
Page
of 9
Search research articles
Search
Showing results (51-60 of 90) with videos related to
Sort By:
Page
of 9
Brain Pathology (Zurich, Switzerland)
|
December 30, 2020
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
Sabrina 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 deletion
Ginevra 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 rearrangement
Sabrina 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 Young
Selene Cipri, Antonella Cacchione, Emanuele Agolini, et al.
Human Molecular Genetics
|
March 17, 2018
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy
Antonella 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 Dysplasia
Ginevra 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 Literature
Gabriele 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 series
Gina 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 tumors
Marialetizia 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 ataxia
Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, et al.
Page
of 9