학술논문
'학술논문'
에서 검색결과 61건 | 목록
1~10
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
Academic Journal
Di Fede, E.; Lettieri, A.; Taci, E.; Castiglioni, S.; Parodi, C.; Colombo, E.A.; Grazioli, P.; Massa, V.; Gervasini, C.; Rebellato, S.; Fazio, G.; Natacci, F.; Marchisio, P.; Pezzani, L.; Milani, D.
In: Human Genetics . (Human Genetics, June 2024, 143(6):747-759)
Academic Journal
Pezzani, L.; Scatigno, A.; Cereda, A.; Pezzoli, L.; Rosina, E.; Lucca, C.; Bellini, M.; Marchetti, D.; Iascone, M.; Maino, M.; Mangili, G.; Selicorni, A.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, May 2024, 194(5))
Academic Journal
Cannova, S.; Alberti, F.; Meossi, C.; Grilli, F.; Milani, D.; Cesaretti, C.; Marchisio, P.G.; Pezzani, L.; Crosti, F.
In: Clinical Genetics . (Clinical Genetics, March 2024, 105(3):313-316)
Academic Journal
Di Feo, M.F.; Oghabian, A.; Nippala, E.; Johari, M.; Hackman, P.; Udd, B.; Savarese, M.; Gautel, M.; Jungbluth, H.; Forzano, F.; Malfatti, E.; Castiglioni, C.; Krey, I.; Gomez Andres, D.; Brady, A.F.; Iascone, M.; Cereda, A.; Pezzani, L.; Natera De Benito, D.; Nascimiento Osorio, A.; Estévez Arias, B.; Kurbatov, S.A.; Attie-Bitach, T.; Nampoothiri, S.; Ryan, E.; Morrow, M.; Gorokhova, S.; Chabrol, B.; Sinisalo, J.; Tolppanen, H.; Tolva, J.; Munell, F.; Camacho Soriano, J.; Sanchez Duran, M.A.; Tajsharghi, H.
In: Annals of Clinical and Translational Neurology . (Annals of Clinical and Translational Neurology, 2024)
Academic Journal
Rosina, E.; Apuril, E.; Pezzoli, L.; Marchetti, D.; Bellini, M.; Lucca, C.; Iascone, M.; Pezzani, L.; Scatigno, A.; Cereda, A.; Meossi, C.; Milani, D.; Massimello, M.; Mariani, M.; Selicorni, A.; Cattaneo, E.; Spaccini, L.; Colombo, L.; Maitz, S.; Bedeschi, M.F.
In: Molecular Genetics and Genomic Medicine . (Molecular Genetics and Genomic Medicine, January 2024, 12(1))
Academic Journal
von Wintzingerode, L.; Hentschel, J.; Abou Jamra, R.; Oppermann, H.; Ben-Zeev, B.; Cesario, C.; Chan, K.M.; Bekheirnia, M.R.; Depienne, C.; Elpeleg, O.; Iascone, M.; Kelley, W.V.; Thompson, M.L.; Nassogne, M.-C.; Niceta, M.; Tartaglia, M.; Pezzani, L.; Rahner, N.; Revencu, N.; Santiago-Sim, T.; Trivisano, M.; Sticht, H.
In: Genetics in Medicine . (Genetics in Medicine, July 2023, 25(7))
Academic Journal
Moroni, A.; Pezzani, L.; Pezzoli, L.; Marchetti, D.; Iascone, M.; Alfei, E.; Scatigno, A.; Cereda, A.; Marzaroli, M.; Guuva, C.; Gabbiadini, S.; Spaccini, L.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, May 2023, 191(5):1459-1464)
Academic Journal
In: Molecular Syndromology . (Molecular Syndromology, 1 January 2023, 13(6):543-550)
Book
In: Atlas of Genodermatoses: Third Edition . (Atlas of Genodermatoses: Third Edition, 28 May 2024, :1-540)
Academic Journal
Rosina, E.; Pezzoli, L.; Marchetti, D.; Bellini, M.; Iascone, M.; Pezzani, L.; Nicastro, E.; Cereda, A.; Scatigno, A.; Milani, D.; Pilotta, A.; Calabrese, O.; Cirillo, F.
In: Genes . (Genes, July 2022, 13(7))
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[AR] Pezzani, L.
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