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Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. [electronic resource] by
- Terrinoni, Alessandro
- Codispoti, Andrea
- Serra, Valeria
- Didona, Biagio
- Bruno, Ernesto
- Nisticò, Robert
- Giustizieri, Michela
- Alessandrini, Marco
- Campione, Elena
- Melino, Gerry
Producer: 20100513
In:
Biochemical and biophysical research communications vol. 394
Availability: No items available.
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Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene. [electronic resource] by
- Campione, Elena
- Terrinoni, Alessandro
- Orlandi, Augusto
- Codispoti, Andrea
- Melino, Gerry
- Bianchi, Luca
- Mazzotta, Annamaria
- Garaci, Francesco Giuseppe
- Ludovici, Andrea
- Chimenti, Sergio
Producer: 20070912
In:
The Journal of investigative dermatology vol. 127
Availability: No items available.
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Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. [electronic resource] by
- Terrinoni, Alessandro
- Codispoti, Andrea
- Serra, Valeria
- Bruno, Ernesto
- Didona, Biagio
- Paradisi, Mauro
- Nisticò, Steven
- Campione, Elena
- Napolitano, Bianca
- Diluvio, Laura
- Melino, Gerry
Producer: 20100507
In:
Biochemical and biophysical research communications vol. 395
Availability: No items available.
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Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. [electronic resource] by
- Didona, Biagio
- Codispoti, Andrea
- Bertini, Enrico
- Rizzo, Wiliam B
- Carney, Gael
- Zambruno, Giovanna
- Dionisi-Vici, Carlo
- Paradisi, Mauro
- Pedicelli, Cristina
- Melino, Gerry
- Terrinoni, Alessandro
Producer: 20071214
In:
Journal of human genetics vol. 52
Availability: No items available.
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Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. [electronic resource] by
- Codispoti, Andrea
- Colombo, Enrico
- Zocchi, Loredana
- Serra, Valeria
- Pertusi, Ginevra
- Leigheb, Giorgio
- Tiberio, Rossana
- Bornacina, Guido
- Zuccoli, Riccardo
- Ramponi, Antonio
- Campione, Elena
- Melino, Gerry
- Terrinoni, Alessandro
Producer: 20090507
In:
European journal of dermatology : EJD vol. 19
Availability: No items available.
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