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Clinical Genetics|March 18, 2021
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 geneEmanuele Agolini, Elena Botta, Mariachiara Lodi, 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.
Acta Neuropathologica Communications|May 12, 2025
Expanding clinicopathologic knowledge in high-grade glioma with pleomorphic and pseudopapillary features (HPAP): a report of two casesSabrina Rossi, Isabella Giovannoni, Sara Patrizi, et al.
Frontiers in Genetics|February 20, 2026
Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilitiesSilvia Guerrera, Ilaria Venezia, Maria Grazia Logrieco, et al.
Diagnostics (Basel, Switzerland)|March 27, 2024
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos SyndromeGiulio Calcagni, Federica Ferrigno, Alessio Franceschini, et al.
Diagnostics (Basel, Switzerland)|February 10, 2021
Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic HypothesisAlessandra Boni, Marco Ranalli, Giada Del Baldo, et al.
International Journal of Molecular Sciences|July 13, 2024
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological MechanismAntonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovese, et al.
Neuropathology and Applied Neurobiology|July 13, 2026
Utility of Optical Genome Mapping in the Characterisation of the Global Genomic Architecture of Paediatric Central Nervous System Tumours: A Pilot StudyViola Alesi, Silvia Genovese, Serena Russo, et al.
Prenatal Diagnosis|May 13, 2015
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesFrancesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B Ferreira, et al.
Pigment Cell & Melanoma Research|January 6, 2026
Melanomas and Mesenchymal Tumors Arising in Giant Congenital Melanocytic Nevi: Clinico-Pathological and Molecular Characterization of a Case SeriesSabrina Rossi, Sabina Barresi, Isabella Giovannoni, et al.
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