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European Journal of Human Genetics : EJHG|April 3, 2019
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 genePaolo Prontera, Daniela Rogaia, Ester Sallicandro, et al.
Parkinsonism & Related Disorders|November 10, 2020
Pathological findings in a patient with alpha-synuclein p.A53T and familial Parkinson's diseaseKenya Nishioka, Yoshio Hashizume, Masashi Takanashi, et al.
American Journal of Medical Genetics. Part A|August 4, 2020
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profileMarianna Farnè, Giovanna M Tedesco, Chiara Bedetti, et al.
American Journal of Medical Genetics. Part A|June 18, 2016
A novel MED12 mutation: Evidence for a fourth phenotypePaolo Prontera, Valentina Ottaviani, Daniela Rogaia, et al.
International Journal of Molecular Sciences|November 13, 2025
Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate ModelValentina Imperatore, Alessandra Mirarchi, Emanuele Agolini, et al.
Neurogenetics|August 18, 2014
DPP6 gene disruption in a family with Gilles de la Tourette syndromePaolo Prontera, Valerio Napolioni, Valentina Ottaviani, et al.
Epilepsia|February 22, 2023
IRF2BPL: A new genotype for progressive myoclonus epilepsiesCinzia Costa, Karen L Oliver, Carmen Calvello, et al.
Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [Di] Societa Italiana Di Ecografia Urologica E Nefrologica|November 29, 2021
Oncological and functional outcomes of extraperitoneal laparoscopic radical prostatectomy: An 18-years, single-center experienceFrancesco Saverio Grossi, Emanuele Utano, Paolo Minafra, et al.
Molecular Genetics and Metabolism|July 31, 2012
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndromeManuela Priolo, Lucia Micale, Bartolomeo Augello, et al.
Neurobiology of Disease|April 14, 2023
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- miceDaniel F Burgos, Miriam Sciaccaluga, Carolyn A Worby, et al.
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