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Audiology & Neuro-Otology|December 22, 2020
Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in TMC1 GeneSamanta Gallo, Patrizia Trevisi, Chiara Rigon, et al.American Journal of Medical Genetics. Part A|March 23, 2026
Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid LeukemiaFrancesco Prevedello, Dario Seif Ali, Chiara Piccolo, et al.Cancers|March 6, 2021
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 VariantsValeria Morbidoni, Elisa Baschiera, Monica Forzan, et al.Pageof 1