Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Francesco, Cali"'
Autor:
Mirella, Vinci, Marco, Fchera, Sebastiano, Antonino Musumeci, Francesco, Cali, Girolamo, Aurelio Vitello
Publikováno v:
Journal of genetics. 97(5)
Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7f4bb5fd02893012668f37dfe03b6cd2
https://pubmed.ncbi.nlm.nih.gov/30555096
https://pubmed.ncbi.nlm.nih.gov/30555096
Autor:
Direzione Scientifica, Antonio Gennaro Nicotera, Francesco Cali, Sebastiano Antonino Musumeci, Mirella Vinci
Publikováno v:
Neurological Sciences. 40:2405-2406
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06a4ec32165b6bc5afb65a4f29059862
https://doi.org/10.1007/s10072-019-03923-2
https://doi.org/10.1007/s10072-019-03923-2
Autor:
Valeria Chiavetta, Alda Ragalmuto, Francesco Cali, Cataldo Scavuzzo, Giuseppa Ruggeri, Pietro Schinocca, Valentino Romano, Mirella Vinci
Publikováno v:
Genetics and molecular research : GMR. 12(2)
We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17ceac8040d214d77d4085f5bd3de0f8
https://pubmed.ncbi.nlm.nih.gov/23661442
https://pubmed.ncbi.nlm.nih.gov/23661442
Autor:
Valeria Chiavetta, Alda Ragalmuto, Carmelo Schepis, Corrado Romano, Francesco Cali, Cataldo Scavuzzo, Giuseppa Ruggeri, Pietro Schinocca, Pinella Failla, Valentino Romano
Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encodi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb2f5d79f8291b6d5915b1a0bce6052e
http://hdl.handle.net/10447/98862
http://hdl.handle.net/10447/98862
Autor:
Francesca Gringeri Pantano, Lucia Trigilia, Teodoro Scamardi, Rosario Portale, Giuseppe Pagnano, Elisabetta Pagelllo, Gabriele Morolli, Francesca Lui, Emanuele Kanceff, Marcello Fagiolo, Alessandro Carlino, Alberto Caprioli, Francesco Calì, Mario Bevilacqua, Paolo Bertoncini Sabatini, Mimmarosa Barresi
La fortuna della letteratura, dell'arte e dell'architettura della Grecia antica nel Sette e Ottocento passa attraverso la riscoperta dei monumenti del Mediterraneo in cui la Sicilia ha un ruolo fondamentale. Come testimoniano i saggi raccolti in ques
Autor:
Bosco, P., Ceratto, N., Francesco Cali, Goltsov, Aa, Eisensmith, Rc, Novelli, G., Dallapiccola, B., Romano, V.
Publikováno v:
Scopus-Elsevier
Europe PubMed Central
Publons
Europe PubMed Central
Publons
We have previously reported preliminary data on a PKU family showing a discordant segregation of Pvu II (b) alleles at the PAH locus. A combination of several restriction enzymes and probe C2.6 (Intron 2) as well as STR typing were used to dissect th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d3b1c57fb31bdb8abca181dfd918158b
https://pubmed.ncbi.nlm.nih.gov/8993180
https://pubmed.ncbi.nlm.nih.gov/8993180
Autor:
Orna Tighe, Donncha Dunican, Charles O'Neill, Giorgio Bertorelle, Diane Beattie, Colin Graham, Johannes Zschocke, Francesco Cali, Valentino Romano, Eva Hrabincova, Libor Kozak, Marina Nechyporenko, Ludmilla Livshits, Per Guldberg, Monika Jurkowska, Cezary Zekanowski, Belen Perez, Lourdes Ruiz Desviat, Magdalena Ugarte, Vaidutis Ku?inskas
Publikováno v:
Human Mutation; Apr2003, Vol. 21 Issue 4, p387-393, 7p
Autor:
Monroe, G. R., Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., Alfen, J. C., Crabben, S. N., Lichtenbelt, K. D., Gerrits, J., Roosmalen, M. J., Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., Koning, T., Francesco Cali, Bosco, P., Sain-Van Velden, M. G. M., Knoers, N. V., Bakkers, J., Duif-Verhoeven, N. M., Haaften, G., Jans, J. J.
Publikováno v:
Publons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::43c3b60308289c2c7f52c178f6a3d688
https://publons.com/publon/27569370/
https://publons.com/publon/27569370/