Search Results - Karen Oliver
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Contrasting evolutionary genome dynamics between domesticated and wild yeasts by Jia‐Xing Yue, Jing Li, Louise Aigrain, Johan Hallin, Karl Persson, Karen Oliver, Anders Bergström, Paul Coupland, Jonas Warringer, Marco Cosentino Lagomarsino, Gilles Fischer, Richard Durbin, Gianni Liti
Published 2017Artigo -
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A variant of <scp>KCC</scp> 2 from patients with febrile seizures impairs neuronal Cl <sup>−</sup> extrusion and dendritic spine formation by Martin Puskarjov, Patricia Seja, Sarah E. Heron, Tristiana C. Williams, Faraz Ahmad, Xenia Iona, Karen Oliver, Bronwyn E. Grinton, László Vutskits, Ingrid E. Scheffer, Steven Petrou, Peter Blaesse, Leanne M. Dibbens, Samuel F. Berkovic, Kai Kaila
Published 2014Artigo -
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A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24 by Mark Corbett, Melanie Bahlo, Lachlan A. Jolly, Zaid Afawi, Alison Gardner, Karen Oliver, Stanley Tan, A. Kirtland Coffey, John C. Mulley, Leanne M. Dibbens, Simri Walid, Adel Shalata, Sara Kivity, Graeme D. Jackson, Samuel F. Berkovic, Jozef Gécz
Published 2010Artigo -
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Evolution of an Eurasian Avian-like Influenza Virus in Naïve and Vaccinated Pigs by Pablo R. Murcia, Joseph Hughes, Patrizia Battista, Lucy E. Lloyd, Gregory J. Baillie, Ricardo H. Ramírez-González, Doug Ormond, Karen Oliver, Debra Elton, J. A. Mumford, Mario Cáccamo, Paul Kellam, Bryan T. Grenfell, Edward C. Holmes, James L. N. Wood
Published 2012Artigo -
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Using de novo assembly to identify structural variation of eight complex immune system gene regions by Jiayuan Zhang, Hannah Roberts, David S. C. Flores, Antony J. Cutler, Andrew Brown, Justin P. Whalley, Olga Mielczarek, David Buck, Helen Lockstone, Barbara Xella, Karen Oliver, Craig Corton, Emma Betteridge, Rachael Bashford-Rogers, Julian C. Knight, John A. Todd, Gavin Band
Published 2021Artigo -
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Prevalence of small inversions in yeast gene order evolution by Cathal Seoighe, Nancy A. Federspiel, Ted Jones, Nancy F. Hansen, Vesna Bivolarovic, Ray Surzycki, Raquel Tamse, C. Komp, Lucas Huizar, Ronald W. Davis, Stewart Scherer, Evelyn Tait, Duncan J. Shaw, David Harris, Lee Murphy, Karen Oliver, K. Taylor, Marie‐Adèle Rajandream, Bart Barrell, Kenneth H. Wolfe
Published 2000Artigo -
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Mutation of the nuclear lamin gene<i>LMNB2</i>in progressive myoclonus epilepsy with early ataxia by John A. Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen Oliver, Hans‐Henrik M. Dahl, A. Eliot Shearer, Richard J. Smith, Nathan E. Hall, Khalid Mahmood, Richard J. Leventer, Ingrid E. Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D. Korczyn, Harald Herrmann, Samuel F. Berkovic, Michael S. Hildebrand
Published 2015Artigo -
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Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease by Raphael Schiffmann, Gary J. Murray, DA Treco, P Daniel, M. Sellos-Moura, Mark A. Myers, Jane M. Quirk, Gregory C. Zirzow, M Borowski, Kenneth S. Loveday, Tim Anderson, Frances P. Gillespie, Karen Oliver, Neal Jeffries, Ed Doo, T. Jake Liang, Constance Kreps, Kurt C. Gunter, Karen Frei, Kevin E. Crutchfield, Robert F. Selden, Roscoe O. Brady
Published 2000Artigo -
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Benchmarking ultra-high molecular weight DNA preservation methods for long-read and long-range sequencing by Hollis A. Dahn, Jacquelyn Mountcastle, Jennifer Balacco, Sylke Winkler, Iliana Bista, Anthony D. Schmitt, Olga Vinnere Pettersson, Giulio Formenti, Karen Oliver, Michelle Smith, Wenhua Tan, Anne Kraus, Stephen Mac, Lisa M. Komoroske, Tanya M. Lama, Andrew J. Crawford, Robert W. Murphy, Samara Brown, Alan F. Scott, Phillip A. Morin, Erich D. Jarvis, Olivier Fédrigo
Published 2022Artigo -
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<i>WWOX</i>developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk by Karen Oliver, Marina Trivisano, Simone Mandelstam, Angela De Dominicis, David Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Métreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaëtan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
Published 2023Artigo -
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The role of common genetic variation in presumed monogenic epilepsies by Ciarán Campbell, Costin Leu, Yen‐Chen Anne Feng, Stefan Wolking, Claudia Moreau, Colin A. Ellis, Shiva Ganesan, Helena Martins, Karen Oliver, Isabelle Boothman, Katherine A. Benson, Anne M. Molloy, Lawrence C. Brody, Jacques L. Michaud, Fadi F. Hamdan, Berge A. Minassian, Holger Lerche, Ingrid E. Scheffer, Sanjay M. Sisodiya, Simon Girard, Patrick Cosette, Norman Delanty, Dennis Lal, Gianpiero L. Cavalleri
Published 2022Artigo -
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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures by Candace T. Myers, Nicholas Stong, Emily Mountier, Katherine L. Helbig, Saskia Freytag, Joseph Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N. Shinde, Arezoo Rezazadeh, Brigid M. Regan, Karen Oliver, Michelle Ernst, Natalie Lippa, Maureen Mulhern, Zhong Ren, Annapurna Poduri, Danielle M. Andrade, Lynne M. Bird, Melanie Bahlo, Samuel F. Berkovic, Daniel H. Lowenstein, Ingrid E. Scheffer, Lynette G. Sadleir, David B. Goldstein, Heather C. Mefford, Erin L. Heinzen
Published 2017Artigo -
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Deciphering the biology of Mycobacterium tuberculosis from the complete genome sequence by Stewart T. Cole, Roland Brosch, Julian Parkhill, T. Garnier, Carol Churcher, David Harris, Stephen V. Gordon, Karin Eiglmeier, Shahinaz Gas, Clifton E. Barry, Fredj Tekaia, K. Badcock, D. Basham, Daniel R. Brown, Tracey Chillingworth, R. Connor, Robert M. Davies, K. Devlin, Theresa Feltwell, S. Gentles, N. Hamlin, S. Holroyd, T. Hornsby, Kay Jagels, Anders Krogh, Jaime McLean, Sharon Moule, Lee Murphy, Karen Oliver, Jason W. Osborne, Michael A. Quail, M.-A. Rajandream, Jane Rogers, Simon Rutter, Kathy Seeger, Jason Skelton, Rob Squares, S. Squares, John Sulston, K. Taylor, Sally Whitehead, B. G. Barrell
Published 1998Artigo -
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Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) by Samuel F. Berkovic, John F. Staropoli, Stirling Carpenter, Karen Oliver, Stanislav Kmoch, Glenn Anderson, John A. Damiano, Michael S. Hildebrand, Katherine B. Sims, Susan L. Cotman, Melanie Bahlo, Katherine R. Smith, Maxime Cadieux‐Dion, Patrick Cossette, Ivana Jedličková, Anna Přistoupilová, Sara Mole, Umberto Aguglia, Danielle M Andrade, Francesca Bisulli, Sylvia Boesch, Laura Canafoglia, Hans‐Henrik M. Dahl, Rainer Ehling, Silvana Franceschetti, Antonio Gambardella, Michael Gonzales, Renate Kalnins, Anthony E. Lang, Eliza Lewandowska, Laura Licchetta, Tiago Mestre, Michela Morbin, Chantal F. Morel, Klary E. Niezen‐Koning, Filippo M. Santorelli, Alessandro Simonati, Paolo Tinuper
Published 2016Artigo -
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Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes by Carolina Courage, Karen Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betül Baykan, Christian Brandt, Carlo Di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M. Dibbens, Barbara Castellotti, P. Riguzzi, Angelo Labate, Alessandro Filla, Anna Teresa Giallonardo, Géza Berecki, Christopher B. Jackson, Tarja Joensuu, John A. Damiano, Sara Kivity, Amos D. Korczyn, Aarno Palotie, Pasquale Striano, Davide Uccellini, Loretta Giuliano, Eva Andermann, Ingrid E. Scheffer, Roberto Michelucci, Melanie Bahlo, Silvana Franceschetti, William C. Sessa, Samuel F. Berkovic, Anna‐Elina Lehesjoki
Published 2021Artigo -
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Complete vertebrate mitogenomes reveal widespread repeats and gene duplications by Giulio Formenti, Arang Rhie, Jennifer Balacco, Bettina Haase, Jacquelyn Mountcastle, Olivier Fédrigo, Samara Brown, Marco Rosario Capodiferro, Farooq O. Al-Ajli, Roberto Ambrosini, Peter Houde, Sergey Koren, Karen Oliver, Michelle Smith, Jason Skelton, Emma Betteridge, Jale Dolucan, Craig Corton, Iliana Bista, James Torrance, Alan Tracey, Jonathan Wood, Marcela Uliano‐Silva, Kerstin Howe, Shane McCarthy, Sylke Winkler, Woori Kwak, Jonas Korlach, Arkarachai Fungtammasan, Daniel Fordham, Vânia Costa, Simon Mayes, Matteo Chiara, David S. Horner, Eugene W. Myers, Richard Durbin, Alessandro Achilli, Edward L. Braun, Adam M. Phillippy, Erich D. Jarvis
Published 2021Artigo
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