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Sabina Barresi

Showing results (61-70 of 90) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 9, 2015
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patientsDavide Tonduti, Chiara Aiello, Florence Renaldo, et al.
Scientific Reports|September 13, 2024
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effectGiada Del Baldo, Angela Mastronuzzi, Selene Cipri, et al.
Pharmacological Research|May 11, 2025
Age-linked DNA methylation and gene expression patterns in parameningeal head and neck alveolar rhabdomyosarcoma reveal CDK9 as a promising therapeutic targetSara Patrizi, Silvia Vallese, Sabina Barresi, et al.
Cellular and Molecular Life Sciences : CMLS|September 22, 2022
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxiaAndrea Delle Vedove, Janani Natarajan, Ginevra Zanni, et al.
Pathologica|December 19, 2022
Paediatric-type diffuse high-grade gliomas in the 5th CNS WHO ClassificationFrancesca Gianno, Isabella Giovannoni, Barbara Cafferata, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsAlessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, et al.
The Journal of Pathology|February 18, 2026
High-grade endometrial stromal sarcoma is closely related to BCOR-altered sarcomas of the soft tissue and kidney rather than to other uterine sarcomas: implications for uterine sarcoma classificationDamiano Arciuolo, Sara Patrizi, Rita Alaggio, et al.
Neuropathology and Applied Neurobiology|May 28, 2021
ALK-rearranged histiocytosis: Report of two cases with involvement of the central nervous systemSabrina Rossi, Marco Gessi, Sabina Barresi, et al.
American Journal of Human Genetics|March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial CalcificationXiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
Human Mutation|March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsDiana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
Pageof 9

Showing results (61-70 of 90) with videos related to

Sort By:
Pageof 9
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 9, 2015
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patientsDavide Tonduti, Chiara Aiello, Florence Renaldo, et al.
Scientific Reports|September 13, 2024
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effectGiada Del Baldo, Angela Mastronuzzi, Selene Cipri, et al.
Pharmacological Research|May 11, 2025
Age-linked DNA methylation and gene expression patterns in parameningeal head and neck alveolar rhabdomyosarcoma reveal CDK9 as a promising therapeutic targetSara Patrizi, Silvia Vallese, Sabina Barresi, et al.
Cellular and Molecular Life Sciences : CMLS|September 22, 2022
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxiaAndrea Delle Vedove, Janani Natarajan, Ginevra Zanni, et al.
Pathologica|December 19, 2022
Paediatric-type diffuse high-grade gliomas in the 5th CNS WHO ClassificationFrancesca Gianno, Isabella Giovannoni, Barbara Cafferata, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsAlessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, et al.
The Journal of Pathology|February 18, 2026
High-grade endometrial stromal sarcoma is closely related to BCOR-altered sarcomas of the soft tissue and kidney rather than to other uterine sarcomas: implications for uterine sarcoma classificationDamiano Arciuolo, Sara Patrizi, Rita Alaggio, et al.
Neuropathology and Applied Neurobiology|May 28, 2021
ALK-rearranged histiocytosis: Report of two cases with involvement of the central nervous systemSabrina Rossi, Marco Gessi, Sabina Barresi, et al.
American Journal of Human Genetics|March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial CalcificationXiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
Human Mutation|March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsDiana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
Pageof 9