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Author/Creator Torrente, Isabella

1. Defining the Epsilon‐Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus‐Dystonia: A Reappraisal of Genetic Testing Criteria. Issue 6 (15th May 2013)

Authors:
Carecchio, Miryam; Magliozzi, Monia; Copetti, Massimiliano; Ferraris, Alessandro; Bernardini, Laura; Bonetti, Monica; Defazio, Giovanni; Edwards, Mark J.; Torrente, Isabella; Pellegrini, Fabio; Comi, Cristoforo; Bhatia, Kailash P.; Valente, Enza Maria
Journal:
Movement disorders
Issue:
Volume 28:Issue 6(2013)
Page Start:
787
Record Type:
Journal Article
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2. DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations. Issue 4 (9th June 2013)

Authors:
Magliozzi, Monia; Piane, Maria; Torrente, Isabella; Sinibaldi, Lorenzo; Rizzo, Giovanni; Savio, Camilla; Lulli, Patrizia; De Luca, Alessandro; Dallapiccola, Bruno; Chessa, Luciana
Journal:
Disease markers
Issue:
Volume 22:Issue 4(2006)
Page Start:
257
Record Type:
Journal Article
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3. Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. Issue 4 (4th January 2023)

Authors:
Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Torres, Barbara; Goldoni, Marina; Onori, Annamaria; Bernardini, Laura; De Luca, Alessandro; Torrente, Isabella; Pizzuti, Antonio
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 4(2023)
Page Start:
1101
Record Type:
Journal Article
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4. Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome. Issue 10 (11th August 2016)

Authors:
Battaglia, Agatino; Bernardini, Laura; Torrente, Isabella; Novelli, Antonio; Scarselli, Gloria
Other Names:
Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 10(2016)
Page Start:
2531
Record Type:
Journal Article
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