檢索結果 - Annette Schenck
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A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry 由 Bonnie Nijhof, Anna Castells‐Nobau, Louis Wolf, Jolanda M. Scheffer-de Gooyert, Ignacio Cobeta, Laura Torroja, Lluís Coromina, Jeroen van der Laak, Annette Schenck
出版 2016Artigo -
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Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules 由 Korinna Kochinke, Christiane Zweier, Bonnie Nijhof, Michaela Fencková, Pavel Čížek, Frank Honti, Shivakumar Keerthikumar, Merel A.W. Oortveld, Tjitske Kleefstra, Jamie M. Kramer, Caleb Webber, Martijn A. Huynen, Annette Schenck
出版 2016Artigo -
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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila 由 Christiane Zweier, Eiko K. de Jong, Markus Zweier, Alfredo Orrico, Lilian Bomme Ousager, Amanda Collins, Emilia K. Bijlsma, Merel A.W. Oortveld, Arif B. Ekici, André Reis, Annette Schenck, Anita Rauch
出版 2009Artigo -
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Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders 由 Michaela Fencková, Laura E.R. Blok, Lenke Asztalos, David P. Goodman, Pavel Čížek, Euginia L. Singgih, Jeffrey Glennon, Joanna IntHout, Christiane Zweier, Evan E. Eichler, Catherine R. von Reyn, Raphael Bernier, Zoltán Asztalos, Annette Schenck
出版 2019Artigo -
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Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a 由 Jamie M. Kramer, Korinna Kochinke, Merel A.W. Oortveld, Hendrik Marks, Daniela Kramer, Eiko K. de Jong, Zoltán Asztalos, J. Timothy Westwood, Hendrik G. Stunnenberg, Marla B. Sokolowski, Krystyna Keleman, Huiqing Zhou, Hans van Bokhoven, Annette Schenck
出版 2011Artigo -
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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation 由 Arijit Mukhopadhyay, Jamie M. Kramer, Gerard Merkx, Dorien Lugtenberg, Dominique Smeets, Merel A.W. Oortveld, Ellen A.W. Blokland, Jyoti Agrawal, Annette Schenck, Hans van Bokhoven, Erik Huys, Eric Schoenmakers, Ad Geurts van Kessel, C. E. van Nouhuys, Frans P.M. Cremers
出版 2010Artigo -
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Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration 由 Aline Dubos, Anna Castells‐Nobau, Hamid Méziane, Merel A.W. Oortveld, Xander Houbaert, Giovanni Iacono, Christelle Martin, Christophe Mittelhaeuser, Valérie Lalanne, Jamie M. Kramer, Anuradha Bhukel, Christine Quentin, Jan Slabbert, Patrik Verstreken, Stefan J. Sigrist, Nadia Messaddeq, Marie‐Christine Birling, Mohammed Selloum, Henk G. Stunnenberg, Yann Humeau, Annette Schenck, Yann Hérault
出版 2015Artigo -
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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway 由 Simon T. Cliffe, Jamie M. Kramer, Khalid Hussain, Joris H. Robben, Eiko K. de Jong, Arjan Pm de Brouwer, Esther Nibbeling, Erik‐Jan Kamsteeg, Melanie Wong, Julie Prendiville, Chela James, Raja Padidela, Charlie Becknell, Hans van Bokhoven, Peter M.T. Deen, Raoul C. M. Hennekam, Robert Lindeman, Annette Schenck, Tony Roscioli, Michael F. Buckley
出版 2009Artigo -
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Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder 由 Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak, Max H. Stone, Margot R.F. Reijnders, Sonja de Munnik, Marjolein H. Willemsen, Michaela Fencková, Connie T. R. M. Stumpel, Levinus A. Bok, Margarita Sáenz, Kyna A. Byerly, Linda B. Baughn, Alexander P.A. Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M. Kramer
出版 2017Artigo
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Biology
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Gene
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Intellectual disability
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Autism
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Drosophila (subgenus)
Drosophila melanogaster
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FMR1
Fragile x
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Haploinsufficiency
Microcephaly