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

بواسطة Rizzo, R, Pavone, L, Sorge, G, Parano, E, Baraitser, M
منشور في 1990

Life-threatening neurological syndrome in Down's syndrome.

بواسطة Ruggieri, M., Pavone, V., Polizzi, A., Parano, E., Tinè, A.
منشور في 1998

Recurrent peripheral neuropathy in a girl with celiac disease

بواسطة POLIZZI, A., FINOCCHIARO, M., PARANO, E., PAVONE, P., MUSUMECI, S., POLIZZI, A.
منشور في 2000

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

بواسطة 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.
منشور في 1995

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

بواسطة 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
منشور في 1997