Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasiaCallea, M. ; Willoughby, C.E. ; Nieminen, P. ; Di Stazio, M. ; Bellacchio, E. ; Giglio, S. ; Sani, I. ; Vinciguerra, A. ; Maglione, M. ; Tadini, G. ; Clarich, G.Journal of the European Academy of Dermatology and Venereology, 2015-05, Vol.29 (5), p.1032-1034 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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2 |
Material Type: Artigo
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A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian familyCallea, M. ; Nieminen, P. ; Willoughby, C.E. ; Clarich, G. ; Yavuz, I. ; Vinciguerra, A. ; Di Stazio, M. ; Giglio, S. ; Sani, I. ; Maglione, M. ; Pensiero, S. ; Tadini, G. ; Bellacchio, E.Journal of the European Academy of Dermatology and Venereology, 2016-02, Vol.30 (2), p.341-343 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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3 |
Material Type: Artigo
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A new type of strictureplasty for the treatment of multiple long stenosis in Crohn's diseaseSelvaggi, F. ; Sciaudone, G. ; Giuliani, A. ; Limongelli, P. ; Di Stazio, C.Inflammatory bowel diseases, 2007-05, Vol.13 (5), p.641-642 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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4 |
Material Type: Artigo
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Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palateMartinelli, Marcella ; Arlotti, Marzia ; Palmieri, Annalisa ; Scapoli, Luca ; Savoia, Anna ; Di Stazio, Mariateresa ; Pezzetti, Furio ; Masiero, Elena ; Carinci, FrancescoEuropean journal of oral sciences, 2008-06, Vol.116 (3), p.287-290 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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5 |
Material Type: Artigo
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CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA (CAMT): CLINICAL AND BIOLOGICAL CHARACTERIZATION OF FIVE NEW MUTATIONSNoris, P. ; Savoia, A. ; Dufour, C. ; Locatelli, F. ; Di Bari, F. ; Ambaglio, C. ; Rosti, V. ; Zecca, M. ; Ferrari, S. ; Corcione, A. ; Di Stazio, M. ; Seri, M. ; Balduini, C.Journal of thrombosis and haemostasis, 2007-07, Vol.5, p.P-M-189-P-M-189 [Periódico revisado por pares]Texto completo disponível |
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6 |
Material Type: Report
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A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian familyCallea, M ; Nieminen, P ; Willoughby, C E ; Clarich, G ; Yavuz, I ; Vinciguerra, A ; Di Stazio, M ; Giglio, S ; Sani, I ; Maglione, M ; Pensiero, S ; Tadini, G ; Bellacchio, EJournal of the European Academy of Dermatology and Venereology : JEADV, 2016, Vol.30 (2), p.341-343Texto completo disponível |