Zobrazeno 1 - 10
of 207
pro vyhledávání: '"Buoni, S."'
Autor:
Buoni, S., Zannolli, R., Di Bartolo, R.M., Macucci, F., Migliorini, L., Sansoni, R., Cellesi, C.
Publikováno v:
In Clinical Neurophysiology 2005 116(8):1768-1770
Autor:
Buoni, S.1 zannolli@unisi.it, Zannolli, R.1, Macucci, F.1, Ansaldi, S.2, Grasso, M.2, Arbustini, E.2, Fois, A.3
Publikováno v:
Annals of Human Genetics. Nov2004, Vol. 68 Issue 6, p633-638. 6p.
Autor:
Katzaki, E, Morin, G, Pollazzon, M, Papa, Ft, Buoni, S, Hayek, J, Andrieux, J, Lecerf, L, Popovici, C, Receveur, A, MATHIEU DRAMARD, M, Renieri, Alessandra, Mari, Francesca, Philip, N., Papa, FILOMENA TIZIANA
Publikováno v:
American Journal of Medical Genetics Part A. :1711-1717
During the last few years, an increasing number of microdeletion/microduplication syndromes have been delineated. This rapid evolution is mainly due to the availability of microarray technology as a routine diagnostic tool. Microdeletions of the 21q2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f36957cf59dc606b323f87eec71fe8ac
https://doi.org/10.1002/ajmg.a.33478
https://doi.org/10.1002/ajmg.a.33478
Akademický článek
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Autor:
Ariani, Francesca, Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M. A., Spanhol Rosseto, A., Pollazzon, M., Buoni, S., Spiga, Ottavia, Ricciardi, S., Meloni, Ilaria, Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, Alessandra, Mari, Francesca
Publikováno v:
The American Journal of Human Genetics. 83:89-93
Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c860a1534e1cc55e34f47e46fcf6ae
https://doi.org/10.1016/j.ajhg.2008.05.015
https://doi.org/10.1016/j.ajhg.2008.05.015
Autor:
Zannolli, R., Buoni, S., Tassini, M., Nicola, A. De, Betti, G., Felice, C. De, Orsi, A., Varetti, M.C., Ferrara, F., Messina, M., Giannini, C., Mohn, A., Chiarelli, F., Liberati, M., Strambi, M., Funghini, S., Vivi, A., Wevers, R.A., Hayek, J.
Publikováno v:
NMR in Biomedicine, 23, 4, pp. 353-8
NMR in Biomedicine, 23, 353-8
NMR in Biomedicine, 23, 353-8
Item does not contain fulltext Our aim was to compare urinary ethylmalonic acid (EMA) levels in subjects who had no apparent clinical reason to have increased levels of this substance but were suffering from non-specific CNS impairment, and healthy c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e729525f0602ffe0261c8410d64c2e54
http://hdl.handle.net/11365/21999
http://hdl.handle.net/11365/21999
Autor:
Valencia, M, Lapunzina, P, Lim, D, Zannolli, R, Bartholdi, D, Wollnik, B, Al-Ajlouni, O, Eid, S S, Cox, H, Buoni, S, Hayek, J, Martinez-Frias, M L, Perez-Aytes, A, Temtamy, S, Aglan, M, Goodship, J A, Ruiz-Perez, V L
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86f0ad5e9cffa597c8b1943d7c4d897
https://doi.org/10.5167/uzh-31606
https://doi.org/10.5167/uzh-31606
Autor:
Parodi, E., Pintaudi, M., Vignoli, A., Labriola, F., Pessegno, A., Hayek, J., Buoni, S., Baglietto, MARIA GIUSEPPINA, Veneselli, EDVIGE MARIA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3710::415d4c9b1100fa567cd49c6543ffda9d
http://hdl.handle.net/11567/328641
http://hdl.handle.net/11567/328641
Autor:
Pintaudi, M., Vignoli, A., Baglietto, MARIA GIUSEPPINA, Hayek, J., Buoni, S., Labriola, F., Parodi, E., Aiello, F., Galli, J., Giordano, L., Viri, M., Romeo, A., Russo, S., Renieri, A., Veneselli, EDVIGE MARIA, Canevini, M. P.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3710::f3e13a3b5d686d7c0a40c3a1742c4b7d
http://hdl.handle.net/11567/328643
http://hdl.handle.net/11567/328643
Publikováno v:
Europe PubMed Central
The aim of the paper is to verify the existence of an inverse correlation between birth weight and blood pressure (BP) in neonates, infants and adolescents.BP was measured at 7 days, 3, 6, 9, 12 months and 7-18 years in 432 subjects born at term at t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bd875f56525f0aeb2d9e58d3ecee123a
https://pubmed.ncbi.nlm.nih.gov/15765022
https://pubmed.ncbi.nlm.nih.gov/15765022