Хайлтын үр дүнгүүд - Michaela Fencková
- 10-н 1 - 10 үр дүнгүүдийг харуулж байна
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Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules -н 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
Хэвлэсэн 2016Artigo -
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Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders -н 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
Хэвлэсэн 2019Artigo -
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Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder -н 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
Хэвлэсэн 2017Artigo -
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Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability -н Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H. Willemsen, Tom S. Koemans, Lisenka E.L.M. Vissers, W.M. Wissink-Lindhout, Michaela Fencková, Willem M.R. van den Akker, Nael Nadif Kasri, Willy M. Nillesen, Trine Prescott, Robin D. Clark, Koenraad Devriendt, Jeroen van Reeuwijk, Arjan P.M. de Brouwer, Christian Gilissen, Huiqing Zhou, Han G. Brunner, Joris A. Veltman, Annette Schenck, Hans van Bokhoven
Хэвлэсэн 2012Artigo -
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<i>GATAD2B</i>loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in<i>Drosophi... -н Marjolein H. Willemsen, Bonnie Nijhof, Michaela Fencková, Willy M. Nillesen, Ernie M.H.F. Bongers, Anna Castells‐Nobau, Lenke Asztalos, Erika Viràgh, Bregje W.M. van Bon, Emre Tezel, Joris A. Veltman, Han G. Brunner, Bert B.A. de Vries, Joep de Ligt, Helger G. Yntema, Hans van Bokhoven, Bertrand Isidor, Cédric Le Caignec, Elsa Lorino, Zoltán Asztalos, David A. Koolen, Lisenka E.L.M. Vissers, Annette Schenck, Tjitske Kleefstra
Хэвлэсэн 2013Artigo -
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De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila -н Dorien Lugtenberg, Margot R.F. Reijnders, Michaela Fencková, Emilia K. Bijlsma, Raphael Bernier, Bregje W.M. van Bon, Eric Smeets, Anneke T. Vulto‐van Silfhout, Daniëlle G.M. Bosch, Evan E. Eichler, Heather C. Mefford, Gemma L. Carvill, Ernie M.H.F. Bongers, Janneke Schuurs-Hoeijmakers, Claudia Ruivenkamp, Gijs W.E. Santen, Anouk den Braber, Cacha Peeters‐Scholte, Sabine Kuenen, Patrik Verstreken, Rolph Pfundt, Helger G. Yntema, Petra F. de Vries, Joris A. Veltman, Alexander Hoischen, Christian Gilissen, Bert B.A. de Vries, Annette Schenck, Tjitske Kleefstra, Lisenka E.L.M. Vissers
Хэвлэсэн 2016Artigo -
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders -н Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel, Han G. Brunner, Ineke van der Burgt, Charlotte W. Ockeloen, Janneke Schuurs-Hoeijmakers, Jolien S. Klein Wassink‐Ruiter, Connie T. R. M. Stumpel, Servi J.C. Stevens, Hans S.H. Vles, Carlo Marcelis, Hans van Bokhoven, Vincent Cantagrel, Laurence Colleaux, Michaël Nicouleau, Stanislas Lyonnet, Raphael A. Bernier, Jennifer Gerdts, Bradley P. Coe, Corrado Romano, A Alberti, Lucia Grillo, Carmela Scuderi, Magnus Nordenskjöld, Malin Kvarnung, Hui Guo, Kun Xia, Amélie Piton, Bénédicte Gérard, David Geneviève, Bruno Delobel, Daphné Lehalle, Laurence Perrin, Fabienne Prieur, Julien Thévenon, Jozef Gécz, Marie Shaw, Rolph Pfundt, Boris Keren, Aurélia Jacquette, Annette Schenck, Evan E. Eichler, Tjitske Kleefstra
Хэвлэсэн 2016Artigo -
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases -н Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fencková, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N. Turner, Gijs W.E. Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gécz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles E. Schwartz, R. Frank Kooy, Geert Vandeweyer, Céline Helsmoortel, Corrado Romano, A Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G. Amaral, Ingrid E. Scheffer, Martin B. Delatycki, Paul J. Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells‐Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael Bernier, Evan E. Eichler
Хэвлэсэн 2017Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Gene
Genetics
Phenotype
Intellectual disability
Autism
Psychology
Neuroscience
Psychiatry
Candidate gene
Exome sequencing
Histone
Medicine
Computational biology
Developmental psychology
Epigenetics
Exome
Genome
Genome-wide association study
Genotype
Haploinsufficiency
Loss function
Microcephaly
Neurodevelopmental disorder
Single-nucleotide polymorphism
Attention deficit hyperactivity disorder
Autism spectrum disorder
Bioinformatics
Bipolar disorder
Chromatin