Søgeresultater - Eyal Reinstein
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Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice af Christopher J. Cummings, Eyal Reinstein, Yaling Sun, Barbara Antalffy, Yong‐hui Jiang, Aaron Ciechanover, Harry T. Orr, Arthur L. Beaudet, Huda Y. Zoghbi
Udgivet 1999Artigo -
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Chromosomal microarray analysis in fetuses with aberrant right subclavian artery af Idit Maya, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Shiri Yacobson, Ifat Agmon-Fishman, Lital Cohen-Vig, Anat Levi, Eyal Reinstein, Lina Basel‐Vanagaite, Reuven Sharony
Udgivet 2016Artigo -
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Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C af Eyal Reinstein, Ana Gutiérrez‐Fernández, Shay Tzur, Concetta Bormans, Shai Marcu, Einav Tayeb-Fligelman, Chana Vinkler, Annick Raas‐Rothschild, Dana Irge, Meytal Landau, Mordechai Shohat, Xosé S. Puente, Doron M. Behar, Carlos López‐Otín
Udgivet 2016Artigo -
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Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A af Eyal Reinstein, Sophia Frentz, Tim Morgan, Sixto García‐Miñaúr, Richard J. Leventer, George McGillivray, Mitchel Pariani, Anthony van der Steen, Michael Pope, Muriel Holder‐Espinasse, Richard H. Scott, Elizabeth M. Thompson, Terry Robertson, Brian Coppin, Robert J. Siegel, Montserrat Bret Zurita, José Ignacio Rodrı́guez, Carmen del Rocío Monedero Morales, Yuri Blanc Rodrigues, Joaquín Arcas, Anand Saggar, Margaret A. Horton, Elaine H. Zackai, John M. Graham, David L. Rimoin, Stephen P. Robertson
Udgivet 2012Artigo -
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The 2017 international classification of the Ehlers–Danlos syndromes af Fransiska Malfait, Clair A. Francomano, Peter H. Byers, John W. Belmont, Britta Berglund, James H. Black, Lara Bloom, Jessica Bowen, Angela F. Brady, Nigel Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel‐Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan J. Hakim, Xavier Jeunemaı̂tre, Diana Johnson, Birgit Juul‐Kristensen, Ines Kapferer‐Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E. Lavallee, Howard P. Levy, Roberto Mendoza‐Londono, Melanie Pepin, F. Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad T. Tinkle
Udgivet 2017Artigo -
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly af Ina Schanze, Jens Bunt, Jonathan W. C. Lim, Denny Schanze, Ryan J. Dean, Mariëlle Alders, Patricia Blanchet, Tania Attié‐Bitach, Siren Berland, Steven Boogert, Sangamitra Boppudi, Caitlin J. Bridges, Megan T. Cho, William B. Dobyns, Dian Donnai, Jessica Douglas, Dawn Earl, Timothy J. Edwards, Laurence Faivre, Brieana Fregeau, David Geneviève, Marion Gérard, Vincent Gâtinois, Muriel Holder‐Espinasse, Samuel Huth, Kosuke Izumi, Bronwyn Kerr, Elodie Lacaze, Phillis Lakeman, Sonal Mahida, Ghayda Mirzaa, Siân Morgan, C. Nowak, Hilde Peeters, Florence Petit, Daniela T. Pilz, Jacques Puechberty, Eyal Reinstein, Jean‐Baptiste Rivière, Avni Santani, Anouck Schneider, Elliott H. Sherr, Constance Smith‐Hicks, Ilse Wieland, Elaine H. Zackai, Xiaonan Zhao, Richard M. Gronostajski, Martin Zenker, Linda J. Richards
Udgivet 2018Artigo -
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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement af Ines Kapferer‐Seebacher, Melanie Pepin, Roland Werner, Timothy J. Aitman, Ann Nordgren, Heribert Stoiber, Nicole M. Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael J. Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael O. Dorschner, Marcus Schmitt‐Egenolf, Christopher J. Hale, D. Hanna, Hans Christian Hennies, Irene Heiss‐Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L. Mitchell, Deborah A. Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcová, Ruwan Weerakkody, Margaret Yang, F M Pope, Peter H. Byers, Johannes Zschocke, Kirk Aleck, Zoltán Bánki, József Dudás, Herbert Dumfahrt, Hady Haririan, James K. Hartsfield, Charles N. Kagen, Uschi Lindert, Thomas Meitinger, Wilfried Posch, Christian Pritz, David M. Ross, Richard J. Schroer, Georg Wick, Robert S. Wildin, Doris Wilflingseder
Udgivet 2016Artigo
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Relaterede emner
Biology
Gene
Medicine
Genetics
Pathology
Biochemistry
Cell biology
Internal medicine
Locus (genetics)
Molecular biology
Mutation
Anatomy
Aneuploidy
Cell
Chromosome
Connective tissue
Cytoskeleton
Ehlers–Danlos syndrome
Filamin
Joint hypermobility
Neuroscience
Proteasome
Ubiquitin
Ubiquitin ligase
Allele
Aorta
Aortic arch
Ataxia
Autism
Autism spectrum disorder