Up a level |
2020
Pavinato, L., Howe, J. L., Carli, D., Agolini, E., Coviello, D. A., Van de Laar, I. M. B. H., Au, P. Y. B., Di Gregorio, E., Giorgio, E., Pozzi, E., Ferrero, M., Cardaropoli, S., Delle Vedove, A., Salpietro, V., Zara, F., Novelli, A., Wirth, B., Ferrero, G. B., Scherer, S. W. and Brusco, A. (2020). Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 322 - 323. LONDON: SPRINGERNATURE. ISSN 1476-5438
2014
Assereto, S., Robbiano, A., Di Rocco, M., Rossi, A., Cassandrini, D., Panicucci, C., Brigati, G., Biancheri, R., Bruno, C., Minetti, C., Trucks, H., Sander, T., Zara, F. and Gazzerro, E. (2014). Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. Clin. Genet., 86 (1). S. 99 - 102. HOBOKEN: WILEY-BLACKWELL. ISSN 1399-0004