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Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
European Journal of Human Genetics : EJHG|October 2, 2014
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3Mari J Tokita, Penny M Chow, Ghayda Mirzaa, et al.
Human Molecular Genetics|March 11, 2021
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammationEleonora Panfili, Giada Mondanelli, Ciriana Orabona, et al.
Seizure|October 2, 2022
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case seriesGiovanni Battista Dell'Isola, Elisabetta Mencaroni, Paolo Prontera, et al.
Cells|January 10, 2025
Potassium Current Signature of Neuronal/Glial Progenitors in Amniotic Fluid Stem CellsPaola Sabbatini, Sabrina Cipriani, Andrea Biagini, et al.
The Journal of Clinical Endocrinology and Metabolism|January 14, 2016
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid DefectsTiziana de Filippis, Federica Marelli, Gabriella Nebbia, et al.
World Journal of Urology|April 30, 2026
Size matters: not all scopes are created equal! A flow rate reality check for single-use flexible ureteroscopesArman Tsaturyan, Arkadya Musayelyan, Hayk Grigoryan, et al.
BMC Cancer|January 23, 2025
Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific SocietiesGiulia Mammone, Simona Borghesi, Nicolò Borsellino, et al.
Central European Journal of Urology|August 28, 2025
Relocation and evacuation of stone fragments using 7.5 Fr flexible ureteroscope with direct-in-scope suction: an experimental studyArman Tsaturyan, Hakob Sargsyan, Gagik Amirjanyan, et al.
International Journal of Molecular Sciences|August 27, 2021
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion SyndromeKathleen Rooney, Michael A Levy, Sadegheh Haghshenas, et al.
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