檢索結果 - Margo Dona
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Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation 由 Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García‐García, Mireille Claustres, Lisette Hetterschijt, Theo Peters, Bas P. Hartel, Ronald J. E. Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob W.J. Collin, Hannie Kremer, Anne‐Françoise Roux, Erwin van Wijk
出版 2016Artigo -
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Usherin defects lead to early-onset retinal dysfunction in zebrafish 由 Margo Dona, Ralph Slijkerman, Kimberly Lerner, Sanne Broekman, Jeremy Wegner, Taylor Howat, Theo Peters, Lisette Hetterschijt, Nanda Boon, Erik de Vrieze, Nasrin Sorusch, Uwe Wolfrum, Hannie Kremer, Stephan C. F. Neuhauss, Jingjing Zang, Maarten Kamermans, Monte Westerfield, Jennifer B. Phillips, Erwin van Wijk
出版 2018Artigo -
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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking 由 Ruxandra Bachmann‐Gagescu, Margo Dona, Lisette Hetterschijt, E.L.G.M. Tonnaer, Theo Peters, Erik de Vrieze, Dorus A. Mans, Sylvia E. C. van Beersum, Ian G. Phelps, Heleen H. Arts, Jan E.E. Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B. Moens, Stephan C. F. Neuhauss, Hannie Kremer, Erwin van Wijk
出版 2015Artigo -
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<i>ZNF408</i> is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature 由 Rob W.J. Collin, Konstantinos Nikopoulos, Margo Dona, Christian Gilissen, Alexander Hoischen, F. Nienke Boonstra, James A. Poulter, Hiroyuki Kondo, Wolfgang Berger, Carmel Toomes, Tomoko Tahira, Lucas Mohn, Ellen A.W. Blokland, Lisette Hetterschijt, Manir Ali, Johanne M. Groothuismink, Lonneke Duijkers, Chris F. Inglehearn, Lea Sollfrank, Tim M. Strom, Eiichi Uchio, C. E. van Nouhuys, Hannie Kremer, Joris A. Veltman, Erwin van Wijk, Frans P.M. Cremers
出版 2013Artigo -
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Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations 由 Kalyan Dulla, Ralph Slijkerman, Hester C. van Diepen, Sílvia Albert, Margo Dona, Wouter Beumer, Janne J. Turunen, Hee Lam Chan, Iris A. Schulkens, Lars Vorthoren, Cathaline den Besten, Levi C.M. Buil, Iris Schmidt, Jiayi Miao, Hanka Venselaar, Jingjing Zang, Stephan C. F. Neuhauss, Theo Peters, Sanne Broekman, Ronald J. E. Pennings, Hannie Kremer, Gerard Platenburg, Peter Adamson, Erik de Vrieze, Erwin van Wijk
出版 2021Artigo -
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Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma 由 Bruna Calsina, Elena Piñeiro-Yáñez, Ángel M. Martínez‐Montes, Eduardo Caleiras, Ángel Fernández-Sanromán, María Monteagudo, Rafael Torres‐Pérez, Coral Fustero‐Torre, Marta Pulgarín-Alfaro, Eduardo Gil, Rocío Letón, Scherezade Jiménez, Santiago García‐Martín, Maria Carmen Martín, Juan María Roldán‐Romero, Javier Lanillos, Sara Mellid, María Santos, Alberto Díaz‐Talavera, Ángeles Rubio, Patricia González, Bárbara Hernando, Nicole Bechmann, Margo Dona, María Calatayud, Sonsoles Guadalix, Cristina Álvarez‐Escolá, Rita María Regojo, Javier Aller, María Isabel Del Olmo-García, Adrià López‐Fernández, Stephanie Fliedner, Elena Rapizzi, Martin Faßnacht, Felix Beuschlein, Marcus Quinkler, Rodrigo A. Toledo, Massimo Mannelli, Henri Timmers, Graeme Eisenhofer, Sandra Rodríguez, Orlando Domı́nguez, Geoffrey Macintyre, María Currás-Freixes, Cristina Rodríguez‐Antona, Alberto Cascón, Luis J. Leandro‐García, Cristina Montero‐Conde, Giovanna Roncador, Juan F. Garcı́a, Karel Pacák, Fátima Al‐Shahrour, Mercedes Robledo
出版 2023Artigo
相關主題
Biology
Gene
Genetics
Zebrafish
Cell biology
Mutant
Retinitis pigmentosa
Molecular biology
Mutation
Alternative splicing
Biochemistry
Exon
Retinal
Retinal degeneration
Allele
Bioinformatics
Cancer
Cancer research
Ciliogenesis
Ciliopathies
Ciliopathy
Cilium
Dynein
Embryonic stem cell
Exocyst
Exocytosis
Exon skipping
Exon trapping
GTPase
Gene expression