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1دورية أكاديمية
المؤلفون: Rene Moya, Clémentine Angée, Sylvain Hanein, Fabienne Jabot-Hanin, Josseline Kaplan, Isabelle Perrault, Jean-Michel Rozet, Lucas Fares Taie
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 11, p 6151 (2024)
مصطلحات موضوعية: Leber congenital amaurosis (LCA), early-onset retinal dystrophy (EOSRD), Chile, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/11/6151Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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2دورية أكاديمية
المؤلفون: Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot-Hanin, Béatrice Bocquet, Isabelle Meunier, Xavier Zanlonghi, Josseline Kaplan, Jean-Michel Rozet
المصدر: Genes, Vol 12, Iss 2, p 287 (2021)
مصطلحات موضوعية: Leber congenital amaurosis, RPGRIP1, deep intronic variant, oligotherapy, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Corinne Stoetzel, Séverine Bär, Johan-Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer R. Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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4دورية أكاديمية
المؤلفون: Iris Barny, Isabelle Perrault, Christel Michel, Nicolas Goudin, Sabine Defoort-Dhellemmes, Imad Ghazi, Josseline Kaplan, Jean-Michel Rozet, Xavier Gerard
المصدر: Genes, Vol 10, Iss 5, p 368 (2019)
مصطلحات موضوعية: Leber congenital amaurosis and allied retinal ciliopathies, CEP290, Flanders founder c.4723A >, T nonsense mutation, Cilia elongation, spontaneous nonsense correction, AON-mediated exon skipping, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المصدر: Molecular Therapy: Nucleic Acids, Vol 4, Iss C (2015)
مصطلحات موضوعية: CEP290, intravitreal injection, Leber congenital amaurosis, 2′OMePS antisense oligonucleotide, retinal dystrophies, splice-switching therapy, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S216225311630035XTest; https://doaj.org/toc/2162-2531Test
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6دورية أكاديمية
المؤلفون: Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet
المصدر: PLoS ONE, Vol 8, Iss 1, p e51622 (2013)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3538699?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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7دورية أكاديمية
المؤلفون: Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet
المصدر: Molecular Therapy: Nucleic Acids, Vol 1, Iss C (2012)
مصطلحات موضوعية: antisense oligonucleotide, CEP290, ciliogenesis repair, LCA, splice switching-mediated therapy, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253116300853Test; https://doaj.org/toc/2162-2531Test
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8
المؤلفون: Vasily M. Smirnov, Matthieu P. Robert, Christel Condroyer, Julien Navarro, Aline Antonio, Jean-Michel Rozet, José-Alain Sahel, Isabelle Perrault, Isabelle Audo, Christina Zeitz
المصدر: JAMA ophthalmology. 140(12)
مصطلحات موضوعية: Ophthalmology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b04bc8cfb1e1c7f25fcfd538eea90a7Test
https://pubmed.ncbi.nlm.nih.gov/36264558Test -
9دورية أكاديمية
المؤلفون: Isabelle Perrault, Jan Halbritter, Jonathan D. Porath, Xavier Gérard, Daniela A. Braun, Heon Yung Gee, Hanan Fathy, Sophie Saunier, Valérie Cormier‐Daire, Sophie Thomas, Tania Attié‐Bitach, Nathalie Boddaert, Michael Taschner, Markus Schueler, Esben Lorentzen, Richard P. Lifton, Jennifer A. Lawson, Meriem Garfa-Traoré, Edgar A. Otto, Philippe Bastin, Catherine Caillaud, Josseline Kaplan, Jean‐Michel Rozet, Friedhelm Hildebrandt
مصطلحات موضوعية: Ciliopathies Genetic Disorders Involving Primary Cilia, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Nephropathic Cystinosis Research, Pathology and Forensic Medicine, Medicine, Health Sciences, Development and Disorders of Fetal Brain, Pediatrics, Perinatology and Child Health, Intraflagellar Transport, Ciliopathies, Ciliopathy, Cilium, Biology, Bardet–Biedl syndrome, Ciliogenesis, Intraflagellar transport, GLI2, Phenotype, Joubert syndrome, Mutation, Gene, Cell biology, Sonic hedgehog, Mutant
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10دورية أكاديمية
المؤلفون: Isabelle Perrault, Jan Halbritter, Jonathan D. Porath, Xavier Gérard, Daniela A. Braun, Heon Yung Gee, Hanan Fathy, Sophie Saunier, Valérie Cormier‐Daire, Sophie Thomas, Tania Attié‐Bitach, Nathalie Boddaert, Michael J. Taschner, Markus Schueler, Esben Lorentzen, Richard P. Lifton, Edgar A. Otto, Philippe Bastin, Josseline Kaplan, Friedhelm Hildebrandt, Jean‐Michel Rozet
مصطلحات موضوعية: Ciliopathies Genetic Disorders Involving Primary Cilia, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Hedgehog Signaling in Development and Cancer, Molecular Biology, Epigenetic Modifications and Their Functional Implications, Hedgehog Signaling, Ciliopathy, Biology, Exon, Cilium, GLI2, Polydactyly, Nephronophthisis, Hedgehog, Mutation, Ciliopathies, Retinitis pigmentosa, Gene, Phenotype