POZZI, ELISA

POZZI, ELISA  

SCIENZE CLINICHE E BIOLOGICHE  

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Titolo Data di pubblicazione Autore(i) File
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 2014 C. Mancini1; S. Nassani2; Y. Guo3; E. Giorgio1; A. Calcia1; X. Liu4; E. Di Gregorio5; S. Cavalieri5; E. Pozzi1; A. Brussino1; Y. Xie4; F. Wang3; L. Tian3; W. Chen4; B. Nmezi6; Q. S. Padiath6; H. Jiang4;7; A. Kyttala8; N. R. Pizio2; H. Hakonarson3;9;10; A. Brusco1
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 2013 Cecilia Mancini; Laura Orsi; Simona Cavalieri; Eleonora Di Gregorio; Elisa Giorgio; Alessandro Calcia; Daniela Lacerenza; Elisa Pozzi; Thomas Langer; Quasar Saleem Padiath; Alfredo Brusco
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION 2014 Elisa Giorgio1; Livio Favaro 2; Nicola Lo Buono1; Cecilia Mancini1; Giovanna Vaula 3; Pietro Cortelli 4; Sabina Capellari 4 ;Paola Mandich 5; Niklas Dahl 6; Atle Melberg 7; Elisa Pozzi1; Eleonora Di Gregorio8; Simona Cavalieri8; Pierre Labauge 9; Eleonore Eymard Pierre 9; Harshvardhan Rolyan 10; Odile Boespflug-Tanguy 9;11-13; Laura Gasparini 14; Quasar Saleem Padiath 10; Alessandro Brussino 1; Alfredo Brusco 1;8
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 2014 Elisa Savin1; Eleonora Di Gregorio 1;2; Franco Fiocchi 1; Valeria Giorgia Naretto 1; Elisa Biamino 3; Elga Belligni 3; Cecilia Mancini 2; Simona Cavalieri2; Elisa Pozzi2; Elisa Giorgio 2; Eva Colombo 1; Flavia Talarico 1; Patrizia Pappi 1; Enrico Grosso 1; Margherita Cirillo Silengo 3; Giovanni Battista Ferrero 3; Alfredo Brusco 1
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 2020 Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 2014 Giovanna Vaula1; Elisa Giorgio2; Giovanni Bosco1; Martina Conterno1; Davide Quartana1; Alessandro Calcia2; Cecilia Mancini2; Eleonora Di Gregorio3; Simona Cavalieri2; Elisa Pozzi2; Alessandro Brussino2; Alfredo Brusco2.