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Material Type: Artigo
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Prenatal genetic counseling in pregnancy: the importance of (early) timely referralAalfs, C M ; Smets, E M ; de Haes, J C ; Leschot, N JNederlands tijdschrift voor geneeskunde, 2001-08, Vol.145 (33), p.1577-1581NetherlandsTexto completo disponível |
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Material Type: Artigo
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OCULOPHARYNGEAL MUSCULAR DYSTROPHYAARLI, J. A.Acta neurologica Scandinavica, 1969-01, Vol.45 (4), p.484-492 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Therapeutic Modulation of DMD Splicing by Blocking Exonic Splicing Enhancer Sites with Antisense OligonucleotidesAARTSMA-RUS, A. ; JANSON, A.A.M. ; HEEMSKERK, J.A. ; DE WINTER, C.L. ; VAN OMMEN, G.-J.B. ; VAN DEUTEKOM, J.C.T.Annals of the New York Academy of Sciences, 2006-10, Vol.1082 (1), p.74-76 [Periódico revisado por pares]Malden, USA: Blackwell Publishing IncTexto completo disponível |
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Material Type: Artigo
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Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cellsAARTSMA-RUS, A ; KAMAN, W. E ; BREMMER-BOUT, M ; JANSON, A. A. M ; DEN DUNNEN, J. T ; VAN OMMEN, G-Jb ; VAN DEUTEKOM, J. C. TGene therapy, 2004-09, Vol.11 (18), p.1391-1398 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Antisense-Mediated Exon Skipping: Networking to Meet Opportunities and to Overcome ChallengesAartsma-Rus, AnnemiekeNucleic acid therapeutics, 2014-02, Vol.24 (1), p.1-3 [Periódico revisado por pares]United States: Mary Ann Liebert, IncTexto completo disponível |
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Material Type: Artigo
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New Momentum for the Field of Oligonucleotide TherapeuticsAartsma-Rus, AnnemiekeMolecular therapy, 2016-02, Vol.24 (2), p.193-194 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophyAartsma-Rus, Annemieke ; Bremmer-Bout, Mattie ; Janson, Anneke A.M ; den Dunnen, Johan T ; van Ommen, Gert-Jan B ; van Deutekom, Judith C.TNeuromuscular disorders : NMD, 2002-10, Vol.12, p.S71-S77 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examplesAartsma‐Rus, Annemieke ; Dunnen, Johan T.Human mutation, 2019-10, Vol.40 (10), p.1630-1633 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
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Material Type: Artigo
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Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patientsAartsma-Rus, Annemieke ; Janson, Anneke A.M. ; Kaman, Wendy E. ; Bremmer-Bout, Mattie ; den Dunnen, Johan T. ; Baas, Frank ; van Ommen, Gert-Jan B. ; van Deutekom, Judith C.T.Human molecular genetics, 2003-04, Vol.12 (8), p.907-914 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Antisense-Induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More SenseAartsma-Rus, Annemieke ; Janson, Anneke A.M. ; Kaman, Wendy E. ; Bremmer-Bout, Mattie ; van Ommen, Gert-Jan B. ; den Dunnen, Johan T. ; van Deutekom, Judith C.T.American journal of human genetics, 2004-01, Vol.74 (1), p.83-92 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |