Not logged inPIGN encephalopathy: Characterizing the epileptology
Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. .png)
Share.png)
SaveInhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromeDe Nittis, Pasquelena; Efthymiou, Stephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Alvi, Javeria Raza; Rahman, Zia Ur; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S.; Gleeson, Joseph G.; Murphy, David; Galehdari, Hamid; Shariati, Gholamreza; Mazaheri, Neda; Sedaghat, Alireza; Lesca, Gaetan; Chatron, Nicolas; Salpietro, Vincenzo; Christoforou, Marilena; Houlden, Henry; Simonds, William F.; Pedrazzini, Thierry; Maroofian, Reza; Reymond, Alexandre Share Save Share Save Dissecting KMT2D missense mutations in Kabuki syndrome patientsCocciadiferro, Dario; Augello, Bartolomeo; De Nittis, Pasquelena; Zhang, Jiyuan; Mandriani, Barbara; Malerba, Natascia; Squeo, Gabriella M.; Romano, Alessandro; Piccinni, Barbara; Verri, Tiziano; Micale, Lucia; Pasqualucci, Laura; Merla, Giuseppe Share Save GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability (vol 99, pg 704, 2016)Lodder, Elisabeth M.; De Nittis, Pasquelena; Koopman, Charlotte D.; Wiszniewski, Wojciech; de Souza, Carolina Fischinger Moura; Lahrouchi, Najim; Guex, Nicolas; Napolioni, Valerio; Tessadori, Federico; Beekman, Leander; Nannenberg, Eline A.; Boualla, Lamiae; Blom, Nico A.; de Graaff, Wim; Kamermans, Maarten; Cocciadiferro, Dario; Malerba, Natascia; Mandriani, Barbara; Akdemir, Zeynep Hande Coban; Fish, Richard J.; Eldomery, Mohammad K.; Ratbi, Ilham; Wilde, Arthur A. M.; de Boer, Teun; Simonds, William F.; Neerman-Arbez, Marguerite; Sutton, V. Reid; Kok, Fernando; Lupski, James R.; Reymond, Alexandre; Bezzina, Connie R.; Bakkers, Jeroen; Merla, Giuseppe Share Save GNBS Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityLodder, Elisabeth M.; De Nittis, Pasquelena; Koopman, Charlotte D.; Wiszniewski, Wojciech; Moura de Souza, Carolina Fischinger; Lahrouchi, Najim; Guex, Nicolas; Napolioni, Valerio; Tessadori, Federico; Beekman, Leander; Nannenberg, Eline A.; Boualla, Lamiae; Blom, Nico A.; de Graaff, Wim; Kamermans, Maarten; Cocciadiferro, Dario; Malerba, Natascia; Mandriani, Barbara; Akdemir, Zeynep Hande Coban; Fish, Richard J.; Eldomery, Mohammad K.; Ratbi, Ilham; Wilde, Arthur A. M.; de Boer, Teun; Simonds, William F.; Neerman-Arbez, Marguerite; Sutton, V. Reid; Kok, Fernando; Lupski, James R.; Reymond, Alexandre; Bezzina, Connie R.; Bakkers, Jeroen; Merla, Giuseppe Share Save TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survivalMicale, Lucia; Fusco, Carmela; Fontana, Andrea; Barbano, Raffaela; Augello, Bartolomeo; De Nittis, Pasquelena; Copetti, Massimiliano; Pellico, Maria Teresa; Mandriani, Barbara; Cocciadiferro, Dario; Parrella, Paola; Fazio, Vito Michele; Dimitri, Lucia Maria Cecilia; D'Angelo, Vincenzo; Novielli, Chiara; Larizza, Lidia; Daga, Antonio; Merla, Giuseppe Share Save Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome PatientsMicale, Lucia; Augello, Bartolomeo; Maffeo, Claudia; Selicorni, Angelo; Zucchetti, Federica; Fusco, Carmela; De Nittis, Pasquelena; Pellico, Maria Teresa; Mandriani, Barbara; Fischetto, Rita; Boccone, Loredana; Silengo, Margherita; Biamino, Elisa; Perria, Chiara; Sotgiu, Stefano; Serra, Gigliola; Lapi, Elisabetta; Neri, Marcella; Ferlini, Alessandra; Cavaliere, Maria Luigia; Chiurazzi, Pietro; Della Monica, Matteo; Scarano, Gioacchino; Faravelli, Francesca; Ferrari, Paola; Mazzanti, Laura; Pilotta, Alba; Patricelli, Maria Grazia; Bedeschi, Maria Francesca; Benedicenti, Francesco; Prontera, Paolo; Toschi, Benedetta; Salviati, Leonardo; Melis, Daniela; Di Battista, Eliana; Vancini, Alessandra; Garavelli, Livia; Zelante, Leopoldo; Merla, Giuseppe Share Save Expression of base excision repair key factors and miR17 in familial and sporadic breast cancerDe Summa, S.; Pinto, R.; Pilato, B.; Sambiasi, D.; Porcelli, L.; Guida, G.; Mattioli, E.; Paradiso, A.; Merla, G.; Micale, L.; De Nittis, P.; Tommasi, S. Share Save HDAC6 mediates the acetylation of TRIM50Fusco, Carmela; Micale, Lucia; Augello, Bartolomeo; Mandriani, Barbara; Pellico, Maria Teresa; De Nittis, Pasquelena; Calcagni, Alessia; Monti, Maria; Cozzolino, Flora; Pucci, Piero; Merla, Giuseppe Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}