Proteus syndrome: report of a case with severe brain impairment and fatal course.

af Rizzo, R, Pavone, L, Sorge, G, Parano, E, Baraitser, M
Udgivet 1990

Life-threatening neurological syndrome in Down's syndrome.

af Ruggieri, M., Pavone, V., Polizzi, A., Parano, E., Tinè, A.
Udgivet 1998

Recurrent peripheral neuropathy in a girl with celiac disease

af POLIZZI, A., FINOCCHIARO, M., PARANO, E., PAVONE, P., MUSUMECI, S., POLIZZI, A.
Udgivet 2000

Refinement of the Spinal Muscular Atrophy Locus by Genetic and Physical Mapping

af Wang, C. H., Kleyn, P. W., Vitale, E., Ross, B. M., Lien, L., Xu, J., Carter, T. A., Brzustowicz, L. M., Obici, S., Selig, S., Pavone, L., Parano, E., Penchaszadeh, G. K., Munsat, T., Kunkel, L. M., Gilliam, T. C.
Udgivet 1995

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

af Shah, A B, Chernov, I, Zhang, H T, Ross, B M, Das, K, Lutsenko, S, Parano, E, Pavone, L, Evgrafov, O, Ivanova-Smolenskaya, I A, Annerén, G, Westermark, K, Urrutia, F H, Penchaszadeh, G K, Sternlieb, I, Scheinberg, I H, Gilliam, T C, Petrukhin, K
Udgivet 1997