Zobrazeno 1 - 10
of 15
pro vyhledávání: '"D' Arrigo, S"'
Autor:
Ferraris, A, Bernardini, L, Sabolic Avramovska, V, Zanni, G, Loddo, S, Sukarova Angelovska, E, Parisi, V, Capalbo, A, Tumini, S, Travaglini, L, Mancini, F, Duma, F, Barresi, S, Novelli, A, Mercuri, E, Tarani, L, Italian CBCD Study Group, Bertini, E, Dallapiccola, B, Collaborators: Arrigoni F, Valente E. M., Borgatti, R, Romaniello, R, Accorsi, P, Fazzi, E, Giordano, L, Pinelli, L, Biancheri, R, Mirabelli, M, Rossi, A, Briguglio, M, Tortorella, G, Chiapparini, L, D' Arrigo, S, Moroni, I, Pantaleoni, C, Spaccini, L, Uziel, G, D' Amico, A, Del Giudice, E, Pichiecchio, A, Signorini, S, Battini, R, Casarani, M, Colafati, S, Digilio, Mc, Leuzzi, V, Micalizzi, A, Romani, M, Spalice, A, Vitiello, G, Cirillo, Margherita, Simonati, A.
Publikováno v:
Orphanet Journal of Rare Diseases
Background The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0fc1fc1fa54682b218efb44831a42fa
http://hdl.handle.net/11568/951360
http://hdl.handle.net/11568/951360
Autor:
Brancati, F., Iannicelli, M., Travaglini, L., Mazzotta, A., Bertini, E., Boltshauser, E., D?arrigo, S., Emma, F., Fazzi, E., Gallizzi, R., Gentile, M., Loncarevic, D., Mejaski-Bosnjak, V., Pantaleoni, C., Rigoli, L., Salpietro, C. D., Signorini, S., Stringini, G. R., Verloes, A., Zabloka, D., Dallapiccola, B., Gleeson, J. G., Valente, E. M., Zankl, A., Leventer, R., Smith, P. G., Janecke, A., D?hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Giordano, L., Pinelli, L., Boccone, L., Bigoni, S., Ferlini, A., Donati, M. A., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Briuglia, S., Tortorella, G., Adami, A., Castorina, P., Lalatta, F., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Giudice, E. D., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Uggetti, C., Battini, R., Giacomo, M. D., Cilio, M. R., Di Sabato, M. L., Leuzzi, V., Parisi, P., Pollazzon, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., M('e)garban('e), A., Sabolic Avramovska, V., De Jong, M. M., Stromme, P., Koul, R., Rajab, A., Azam, M., Barbot, C., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Teber, S., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Y
Publikováno v:
Human Mutation, 30(2), E432-E442. Wiley-Liss Inc.
International JSRD Study Group 2009, ' MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement ', Human Mutation, vol. 30, no. 2, pp. E432-E442 . https://doi.org/10.1002/humu.20924
International JSRD Study Group 2009, ' MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement ', Human Mutation, vol. 30, no. 2, pp. E432-E442 . https://doi.org/10.1002/humu.20924
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement. The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Colo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5516a353ea15c6d875abcec34c7ef0e6
http://hdl.handle.net/11588/677358
http://hdl.handle.net/11588/677358
Publikováno v:
Web of Science
Publons
Scopus-Elsevier
Publons
Scopus-Elsevier
In recent years, it has become common practice, in the treatment of headache, to use alternative methods, both alone and in association with drug therapies. Alternative therapies would appear to be more indicated in certain subjects: patients opposed
Akademický článek
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Publikováno v:
Pediatric Neurology; 2000, Vol. 23 Issue: 5 p442-444, 3p
Autor:
Serpieri, V., Nuovo, S., Micalizzi, A., D Abrusco, F., Accorsi, P., roberta battini, Benedicenti, F., Bertini, E., Bigoni, S., Bonati, M., Borgatti, R., Briguglio, M., Casella, A., Ciccone, R., D Arrigo, S., Dotti, M., Emma, F., Fazzi, E., Ginevrino, M., Giordano, L., Moroni, I., Romani, M., Romaniello, R., Signorini, S., Stanzial, F., Vanacore, N., Zanni, G., Valente, E.
Publikováno v:
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::60ca3c58d1d16e6f2d5de3de510a3d9a
https://publons.com/wos-op/publon/42515820/
https://publons.com/wos-op/publon/42515820/
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d5fbc7d20932a940ac79c87eed7f9848
http://www.scopus.com/inward/record.url?eid=2-s2.0-21044453931&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-21044453931&partnerID=MN8TOARS
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1ad1dbb78e2316568bfaa8ebb186d3e5
http://www.scopus.com/inward/record.url?eid=2-s2.0-0141891976&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0141891976&partnerID=MN8TOARS
Autor:
Lanzi, G., Ginevra, Of, cristiano termine, D Arrigo, S., Rossi, M., Ferri, M., Mongelli, A., Beghi, E.
Publikováno v:
Publons
Web of Science
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3af22ce0d0db7062e4d78a9ba58563be
https://publons.com/publon/20924479/
https://publons.com/publon/20924479/
Autor:
Torella, A., Pinelli, M., Castello, R., Musacchia, F., Mutarelli, M., Cappuccio, G., Carrella, D., Vitiello, G., Maitz, S., Leuzzi, V., Parenti, G., Marcello Scala, Donati, M., Guerrini, R., Pantaleoni, C., D Arrigo, S., Zollino, M., Capra, V., Selicorni, A., Brunetti-Pierri, N., Banfi, S., Nigro, V., Casari, G.
Publikováno v:
Publons
Web of Science
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4bc7cbe20660cee28f3398ec0b1eeaed
https://publons.com/publon/31224507/
https://publons.com/publon/31224507/