Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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11 |
Material Type: Artigo
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QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical StudyBornert, Olivier ; Hogervorst, Marieke ; Nauroy, Pauline ; Bischof, Johannes ; Swildens, Jim ; Athanasiou, Ioannis ; Tufa, Sara F. ; Keene, Douglas R. ; Kiritsi, Dimitra ; Hainzl, Stefan ; Murauer, Eva M. ; Marinkovich, M. Peter ; Platenburg, Gerard ; Hausser, Ingrid ; Wally, Verena ; Ritsema, Tita ; Koller, Ulrich ; Haisma, Elisabeth M. ; Nyström, AlexanderJournal of investigative dermatology, 2021-04, Vol.141 (4), p.883-893.e6 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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12 |
Material Type: Artigo
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Mechanisms of skin adherence and invasion by dermatophytesBaldo, A. ; Monod, M. ; Mathy, A. ; Cambier, L. ; Bagut, E. T. ; Defaweux, V. ; Symoens, F. ; Antoine, N. ; Mignon, B.Mycoses, 2012-05, Vol.55 (3), p.218-223 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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13 |
Material Type: Artigo
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An ex vivo RNA trans‐splicing strategy to correct human generalized severe epidermolysis bullosa simplexPeking, P. ; Breitenbach, J.S. ; Ablinger, M. ; Muss, W.H. ; Poetschke, F.J. ; Kocher, T. ; Koller, U. ; Hainzl, S. ; Kitzmueller, S. ; Bauer, J.W. ; Reichelt, J. ; Lettner, T. ; Wally, V.British journal of dermatology (1951), 2019-01, Vol.180 (1), p.141-148 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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14 |
Material Type: Artigo
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High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western GermanyFrommherz, L. ; Krause, A. ; Kopp, J. ; Hotz, A. ; Hübner, S. ; Reimer‐Taschenbrecker, A. ; Casetti, F. ; Zirn, B. ; Fischer, J. ; Has, C.Journal of the European Academy of Dermatology and Venereology, 2021-11, Vol.35 (11), p.2293-2299 [Periódico revisado por pares]Texto completo disponível |
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15 |
Material Type: Artigo
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Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the NetherlandsYuen, W.Y. ; Lemmink, H.H. ; van Dijk-Bos, K.K. ; Sinke, R.J. ; Jonkman, M.F.British journal of dermatology (1951), 2011-12, Vol.165 (6), p.1314-1322 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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16 |
Material Type: Artigo
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Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codonPacho, Frederic ; Zambruno, Giovanna ; Calabresi, Valentina ; Kiritsi, Dimitra ; Schneider, HolmJournal of medical genetics, 2011-09, Vol.48 (9), p.640-644 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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17 |
Material Type: Artigo
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A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migrationDi Zenzo, G. ; El Hachem, M. ; Diociaiuti, A. ; Boldrini, R. ; Calabresi, V. ; Cianfarani, F. ; Fortugno, P. ; Piccinni, E. ; Zambruno, G. ; Castiglia, D.British journal of dermatology (1951), 2014-05, Vol.170 (5), p.1056-1064 [Periódico revisado por pares]Oxford: Blackwell Publishing LtdTexto completo disponível |
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18 |
Material Type: Artigo
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A Site-Specific Plectin Mutation Causes Dominant Epidermolysis Bullosa Simplex Ogna: Two Identical De Novo MutationsKoss-Harnes, Dörte ; Høyheim, Bjørn ; Anton-Lamprecht, Ingrun ; Gjesti, Aud ; Jørgensen, Randi S. ; Jahnsen, Frode L. ; Olaisen, Bjørnar ; Wiche, Gerhard ; Gedde-Dahl, TobiasJournal of investigative dermatology, 2002-01, Vol.118 (1), p.87-93 [Periódico revisado por pares]Danvers, MA: Elsevier IncTexto completo disponível |
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19 |
Material Type: Artigo
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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagenvan den Akker, Peter C ; Mellerio, Jemima E ; Martinez, Anna E ; Liu, Lu ; Meijer, Rowdy ; Dopping-Hepenstal, Patricia J C ; van Essen, Anthonie J ; Scheffer, Hans ; Hofstra, Robert M W ; McGrath, John A ; Jonkman, Marcel FJournal of medical genetics, 2011-03, Vol.48 (3), p.160-167 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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20 |
Material Type: Artigo
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Inherited Junctional Epidermolysis Bullosa in the German Pointer: Establishment of a Large Animal ModelCapt, Annabelle ; Spirito, Flavia ; Guaguere, Eric ; Spadafora, Anne ; Ortonne, Jean-Paul ; Meneguzzi, GuerrinoJournal of investigative dermatology, 2005-03, Vol.124 (3), p.530-535 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |