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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.
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.
American Journal of Medical Genetics. Part A|May 27, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort studyBradley Bowles, Alejandro Ferrer, Carla J Nishimura, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|November 25, 2023
PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven CasesSabrina Rossi, Sabina Barresi, Giovanna Stefania Colafati, et al.
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