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Cell Death Discovery|June 11, 2024
The lncRNAMALAT1-WTAP axis: a novel layer of EMT regulation in hypoxic triple-negative breast cancerMartina Dragonetti, Chiara Turco, Anna Benedetti, et al.International Journal of Neonatal Screening|August 22, 2025
Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential PerspectivesAdelaide Ambrosio, Tiziana Fioretti, Barbara D'Andrea, et al.Investigative Ophthalmology & Visual Science|April 18, 2019
CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by ChoroideremiaValentina Di Iorio, Gabriella Esposito, Francesca De Falco, et al.Human Mutation|September 10, 2011
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferaseGabriella Esposito, Francesca De Falco, Nadia Tinto, et al.Antioxidants (Basel, Switzerland)|December 30, 2025
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in PathophysiologyDario Zoppi, Anna Russo, Francesca Vallefuoco, et al.Nutrients|October 9, 2019
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose IntoleranceFabiola Di Dato, Simona Spadarella, Maria Giovanna Puoti, et al.Diagnostics (Basel, Switzerland)|August 12, 2023
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with BurosumabCarmine Pecoraro, Tiziana Fioretti, Assunta Perruno, et al.BMC Medical Genetics|February 2, 2017
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variantsGabriella Esposito, Francesco Testa, Miriam Zacchia, et al.Scientific Reports|July 3, 2026
Distinct sensory and autonomic involvement in hypermobile Ehlers-Danlos syndrome compared with idiopathic small fiber neuropathy: a multimodal studyDomenico Dell'Aversana, Vincenzo Provitera, Assunta Trinchillo, et al.Scientific Reports|February 8, 2022
Prioritization of putatively detrimental variants in euploid miscarriagesSilvia Buonaiuto, Immacolata Di Biase, Valentina Aleotti, et al.Pageof 6