1) Further evidence for digenic inheritance in Alport
syndrome: combined mutations in collagen IV and slit
diaphragm genes.
A. M Pinto, M. Baldassarri, M.
Grohmann, K. Dahan, H. Storey, E. Landucci, C.
Fallerini, L. Bianciardi, E. Lazzeri, P. Romagnani, A.
Provenzano, S. Giglio, M. D'Amico, C. Pecoraro, I. Meloni,
C. Bergmann, M. Nagel, F. Ariani, F. Mari, A. Renieri.
ESHG meeting, June 2015
2) Imbalance of excitatory/inhibitory synaptic expression in
Rett syndrome iPSC-based neuronal models.
I. Meloni, S.
Amabile, E. Landucci, T. Patriarchi, E.
Frullanti, AM. Pinto, C. Lo Rizzo, F. Ariani, F. Mari, MA.
Mencarelli, JW. Hell, A. Renieri.
ESHG meeting, Glasgow
June 2015
3) Further evidence for digenic inheritance in Alport syndrome:
combined mutations in collagen IV and slit diaphragm genes.
F.
Ariani, A. M. Pinto, M. Baldassarri, M. Grohmann, K. Dahan, H.
Storey, E. Landucci, C. Fallerini, L. Bianciardi,
E. Lazzeri, P. Romagnani, A. Provenzano, S. Giglio, M. D'Amico, C.
Pecoraro, I. Meloni, C. Bergmann, M. Nagel, F. Mari, A. Renieri.
Alport society meeting, Gottingen, September 2015.
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