Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
|
|
5.
|
|
|
6.
|
|
|
7.
|
|
|
8.
|
|
|
9.
|
|
|
10.
|
|
|
11.
|
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. [electronic resource] by
- Bergamin, Giorgia
- Boaretto, Francesca
- Briani, Chiara
- Pegoraro, Elena
- Cacciavillani, Mario
- Martinuzzi, Andrea
- Muglia, Maria
- Vettori, Andrea
- Vazza, Giovanni
- Mostacciuolo, Maria Luisa
Producer: 20151015
In:
Neuromolecular medicine vol. 16
Availability: No items available.
|
|
12.
|
Novel mutations in the L1CAM gene support the complexity of L1 syndrome. [electronic resource] by
- Bertolin, Cinzia
- Boaretto, Francesca
- Barbon, Giovanni
- Salviati, Leonardo
- Lapi, Elisabetta
- Divizia, Maria Teresa
- Garavelli, Livia
- Occhi, Gianluca
- Vazza, Giovanni
- Mostacciuolo, Maria Luisa
Producer: 20101021
In:
Journal of the neurological sciences vol. 294
Availability: No items available.
|
|
13.
|
|
|
14.
|
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants. [electronic resource] by
- Bertolin, Cinzia
- D'Ascenzo, Carla
- Querin, Giorgia
- Gaiani, Alessandra
- Boaretto, Francesca
- Salvoro, Cecilia
- Vazza, Giovanni
- Angelini, Corrado
- Cagnin, Annachiara
- Pegoraro, Elena
- Sorarù, Gianni
- Mostacciuolo, Maria Luisa
Producer: 20141006
In:
Neurobiology of aging vol. 35
Availability: No items available.
|
|
15.
|
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. [electronic resource] by
- Boaretto, Francesca
- Snijders, Deborah
- Salvoro, Cecilia
- Spalletta, Ambra
- Mostacciuolo, Maria Luisa
- Collura, Mirella
- Cazzato, Salvatore
- Girosi, Donatella
- Silvestri, Michela
- Rossi, Giovanni Arturo
- Barbato, Angelo
- Vazza, Giovanni
Producer: 20170615
In:
The Journal of molecular diagnostics : JMD vol. 18
Availability: No items available.
|
|
16.
|
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy. [electronic resource] by
- Lorenzon, Alessandra
- Pilichou, Kalliopi
- Rigato, Ilaria
- Vazza, Giovanni
- De Bortoli, Marzia
- Calore, Martina
- Occhi, Gianluca
- Carturan, Elisa
- Lazzarini, Elisabetta
- Cason, Marco
- Mazzotti, Elisa
- Poloni, Giulia
- Mostacciuolo, Maria Luisa
- Daliento, Luciano
- Thiene, Gaetano
- Corrado, Domenico
- Basso, Cristina
- Bauce, Barbara
- Rampazzo, Alessandra
Producer: 20151229
In:
The American journal of cardiology vol. 116
Availability: No items available.
|
|
17.
|
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy. [electronic resource] by
- Li Mura, Ilena Egle Astrid
- Bauce, Barbara
- Nava, Andrea
- Fanciulli, Manuela
- Vazza, Giovanni
- Mazzotti, Elisa
- Rigato, Ilaria
- De Bortoli, Marzia
- Beffagna, Giorgia
- Lorenzon, Alessandra
- Calore, Martina
- Dazzo, Emanuela
- Nobile, Carlo
- Mostacciuolo, Maria Luisa
- Corrado, Domenico
- Basso, Cristina
- Daliento, Luciano
- Thiene, Gaetano
- Rampazzo, Alessandra
Producer: 20140507
In:
European journal of human genetics : EJHG vol. 21
Availability: No items available.
|
|
18.
|
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. [electronic resource] by
- Crippa, Francesca
- Panzeri, Chris
- Martinuzzi, Andrea
- Arnoldi, Alessia
- Redaelli, Francesca
- Tonelli, Alessandra
- Baschirotto, Cinzia
- Vazza, Giovanni
- Mostacciuolo, Maria Luisa
- Daga, Andrea
- Orso, Genny
- Profice, Paolo
- Trabacca, Antonio
- D'Angelo, Maria Grazia
- Comi, Giacomo Pietro
- Galbiati, Sara
- Lamperti, Costanza
- Bonato, Sara
- Pandolfo, Massimo
- Meola, Giovanni
- Musumeci, Olimpia
- Toscano, Antonio
- Trevisan, Carlo Pietro
- Bresolin, Nereo
- Bassi, Maria Teresa
Producer: 20060628
In:
Archives of neurology vol. 63
Availability: No items available.
|