检索结果 - David A. Keays
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A<i>de novo</i>frameshift in<i>HNRNPK</i>causing a Kabuki-like syndrome with nodular heterotopia 由 Leslie A. Lange, A. T. Pagnamenta, Stefano Lise, Steven Clasper, Helen Stewart, Elham Sadighi Akha, Gerardine Quaghebeur, Samantha J.L. Knight, David A. Keays, Jenny C. Taylor, Usha Kini
出版 2016Artigo -
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Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis 由 Alistair T. Pagnamenta, Malcolm F. Howard, Éva Wisniewski, Niko Popitsch, Samantha J.L. Knight, David A. Keays, Gerardine Quaghebeur, Helen Cox, P. Cox, Tamás Balla, Jenny C. Taylor, Usha Kini
出版 2015Artigo -
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Improved Genome Assembly and Annotation for the Rock Pigeon (<i>Columba livia</i>) 由 Carson Holt, Michael S. Campbell, David A. Keays, Nathaniel B. Edelman, Aurélie Kapusta, Emily Maclary, Eric T. Domyan, Alexander Suh, Wesley C. Warren, Mark Yandell, M. Thomas P. Gilbert, Michael D. Shapiro
出版 2018Artigo -
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No evidence for intracellular magnetite in putative vertebrate magnetoreceptors identified by magnetic screening 由 Nathaniel B. Edelman, Tanja Fritz, Simon Nimpf, Paul Pichler, Mattias Lauwers, R. W. Hickman, Artemis Papadaki-Anastasopoulou, Lyubov Ushakova, Thomas Heuser, Guenter P. Resch, Martin Saunders, Jeremy Shaw, David A. Keays
出版 2014Artigo -
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A Putative Mechanism for Magnetoreception by Electromagnetic Induction in the Pigeon Inner Ear 由 Simon Nimpf, Grégory C. Nordmann, Daniel Kagerbauer, E. Pascal Malkemper, Lukas Landler, Artemis Papadaki-Anastasopoulou, Lyubov Ushakova, Andrea Wenninger-Weinzierl, Maria Novatchkova, Peter Vincent, Thomas Lendl, Martin Colombini, Matthew J. Mason, David A. Keays
出版 2019Artigo -
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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies 由 Alistair T. Pagnamenta, Stefano Lise, Victoria Harrison, Helen Stewart, Sandeep Jayawant, Gerardine Quaghebeur, Alexander T. Deng, V. Murphy, Elham Sadighi Akha, Andy Rimmer, Iain Mathieson, Samantha J.L. Knight, Usha Kini, Jenny C. Taylor, David A. Keays
出版 2011Artigo -
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Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome 由 Annmarie Hempel, Alistair T. Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo‐Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C. Taylor, Malcolm F. Howard, David A. Keays, Aman Singh Sohal, Susanne J. Kühl, Usha Kini, Alisdair McNeill
出版 2015Artigo -
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The biophysical, molecular, and anatomical landscape of pigeon CRY4: A candidate light-based quantal magnetosensor 由 Tobias Hochstoeger, Tarek Al Said, Dante Maestre, Florian Walter, Alexandra Vilceanu, Miriam Pedron, Thomas D. Cushion, William D. Snider, Simon Nimpf, Grégory C. Nordmann, Lukas Landler, Nathaniel B. Edelman, Lennard Kruppa, Gerhard Dürnberger, Karl Mechtler, Stefan Schuechner, Egon Ogris, E. Pascal Malkemper, Stefan Weber, Erik Schleicher, David A. Keays
出版 2020Artigo -
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Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation 由 Malcolm F. Howard, Yoshiko Murakami, Alistair T. Pagnamenta, Cornelia Daumer‐Haas, Björn Fischer‐Zirnsak, Jochen Hecht, David A. Keays, Samantha J.L. Knight, Uwe Kölsch, Ulrike Krüger, Steffen Leiz, Yusuke Maeda, Daphne B. Mitchell, Stefan Mundlos, John A. Phillips, Peter N. Robinson, Usha Kini, Jenny C. Taylor, Denise Horn, Taroh Kinoshita, Peter Krawitz
出版 2014Artigo -
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Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans 由 David A. Keays, Guoling Tian, Karine Poirier, Guo‐Jen Huang, Christian Siebold, James Cleak, Peter L. Oliver, Martin Fray, Victoria L. Harvey, Zoltán Molnár, Maria Carmen Piñon, Neil Dear, William Valdar, Steve D. M. Brown, Kay E. Davies, J. N. P. Rawlins, Nicholas J. Cowan, Patrick M. Nolan, Jamel Chelly, Jonathan Flint
出版 2007Artigo -
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Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities 由 Martin W. Breuss, Julian Ik‐Tsen Heng, Karine Poirier, Guoling Tian, Xavier H. Jaglin, Zhengdong Qu, Andreas Braun, Thomas Gstrein, Linh Ngo, Matilda Haas, Nadia Bahi‐Buisson, Marie‐Laure Moutard, Sandrine Passemard, Alain Verloès, Pierre Gressèns, Yunli Xie, Kathryn Robson, Deepa Selvi Rani, Kumarasamy Thangaraj, Tim Clausen, Jamel Chelly, Nicholas J. Cowan, David A. Keays
出版 2012Artigo -
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Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies 由 Biljana Ilkovski, Alistair T. Pagnamenta, Gina O’Grady, Taroh Kinoshita, Malcolm F. Howard, Monkol Lek, Brett Thomas, Anne Turner, John Christodoulou, David Sillence, Samantha J.L. Knight, Niko Popitsch, David A. Keays, Consuelo Anzilotti, Anne Goriely, Leigh B. Waddell, Fabienne Brilot, Kathryn N. North, Noriyuki Kanzawa, Daniel G. MacArthur, Jenny C. Taylor, Usha Kini, Yoshiko Murakami, Nigel F. Clarke
出版 2015Artigo -
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Impaired Synaptic Plasticity and Motor Learning in Mice with a Point Mutation Implicated in Human Speech Deficits 由 Matthias Groszer, David A. Keays, Robert M. J. Deacon, Joseph de Bono, Shweta Prasad-Mulcare, Simone Gaub, Muriel G. Baum, Catherine A. French, Jérôme Nicod, Julie A. Coventry, Wolfgang Enard, Martin Fray, Steve D. M. Brown, Patrick M. Nolan, Svante Pääbo, Keith M. Channon, Rui M. Costa, Jens Eilers, Günter Ehret, J. N. P. Rawlins, Simon E. Fisher
出版 2008Artigo
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Cerebellar hypoplasia (non-human)