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Date 2021 Author/Creator Fontana, Elena

1. CDKL5 deficiency disorder in males: Five new variants and review of the literature. (July 2021)

Authors:
Siri, Barbara; Varesio, Costanza; Freri, Elena; Darra, Francesca; Gana, Simone; Mei, Davide; Porta, Francesco; Fontana, Elena; Galati, Giulia; Solazzi, Roberta; Niceta, Marcello; Veggiotti, Pierangelo; Alfei, Enrico
Journal:
European journal of paediatric neurology
Issue:
Volume 33(2021)
Page Start:
9
Record Type:
Journal Article
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2. Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy. Issue 2 (29th October 2021)

Authors:
De Maria, Beatrice; Balestrini, Simona; Mei, Davide; Melani, Federico; Pellacani, Simona; Pisano, Tiziana; Rosati, Anna; Scaturro, Giusi M.; Giordano, Lucio; Cantalupo, Gaetano; Fontana, Elena; Zammarchi, Cristina; Said, Edith; Leuzzi, Vincenzo; Mastrangelo, Mario; Galosi, Serena; Parrini, Elena;...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 2(2022)
Page Start:
522
Record Type:
Journal Article
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3. Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper‐IgM syndrome. Issue 3 (21st January 2021)

Authors:
Vavassori, Valentina; Mercuri, Elisabetta; Marcovecchio, Genni E; Castiello, Maria C; Schiroli, Giulia; Albano, Luisa; Margulies, Carrie; Buquicchio, Frank; Fontana, Elena; Beretta, Stefano; Merelli, Ivan; Cappelleri, Andrea; Rancoita, Paola MV; Lougaris, Vassilios; Plebani, Alessandro; Kanariou,...
Journal:
EMBO molecular medicine
Issue:
Volume 13:Issue 3(2021)
Page Start:
n/a
Record Type:
Journal Article
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5. SYNGAP1-DEE: A visual sensitive epilepsy. Issue 4 (April 2021)

Authors:
Lo Barco, Tommaso; Kaminska, Anna; Solazzi, Roberta; Cancés, Claude; Barcia, Giulia; Chemaly, Nicole; Fontana, Elena; Desguerre, Isabelle; Canafoglia, Laura; Hachon Le Camus, Caroline; Losito, Emma; Villard, Laurent; Eisermann, Monika; Dalla Bernardina, Bernardo; Villeneuve, Nathalie; Nabbout, Rima
Journal:
Clinical neurophysiology
Issue:
Volume 132:Issue 4(2021)
Page Start:
841
Record Type:
Journal Article
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