Search Results - Catherine Shain

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  1. 1
    Polymicrogyria‐associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project

    Polymicrogyria‐associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project by Catherine Shain, Sriram Ramgopal, Zianka Fallil, Isha Parulkar, Richard Alongi, Robert Knowlton, Annapurna Poduri

    Published 2013
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  2. 2
    Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

    Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort by Anne Rochtus, Heather E. Olson, Lacey Smith, Louisa G. Keith, Christelle Moufawad El Achkar, Alan Taylor, Sonal Mahida, Meredith Park, McKenna Kelly, Catherine Shain, Shira Rockowitz, Beth Rosen Sheidley, Annapurna Poduri

    Published 2020
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  3. 3
    Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression

    Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression by Heather E. Olson, McKenna Kelly, Christopher M. LaCoursiere, Rebecca Pinsky, Dimira Tambunan, Catherine Shain, Sriram Ramgopal, Masanori Takeoka, Mark H. Libenson, Kristina Jülich, Tobias Loddenkemper, Eric D. Marsh, Devorah Segal, Susan Koh, Michael S. Salman, Alex R. Paciorkowski, Edward Yang, Ann M. Bergin, Beth Rosen Sheidley, Annapurna Poduri

    Published 2017
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  4. 4
    Somatic <i>SLC35A2</i> variants in the brain are associated with intractable neocortical epilepsy

    Somatic <i>SLC35A2</i> variants in the brain are associated with intractable neocortical epilepsy by Melodie R. Winawer, Nicole G. Griffin, Jorge Samanamud, Evan H. Baugh, Dinesh Rathakrishnan, Senthilmurugan Ramalingam, David Zagzag, Catherine A. Schevon, Patricia Dugan, Manu Hegde, Sameer A. Sheth, Guy M. McKhann, Werner Doyle, Gerald A. Grant, Brenda E. Porter, Mohamad A. Mikati, Carrie R. Muh, Colin D. Malone, Ann M. Bergin, Jurriaan M. Peters, Danielle McBrian, Alison Pack, Cigdem I. Akman, Christopher M. LaCoursiere, Katherine M. Keever, Joseph R. Madsen, Edward Yang, Hart G.W. Lidov, Catherine Shain, Andrew S. Allen, Peter Canoll, Peter B. Crino, Annapurna Poduri, Erin L. Heinzen

    Published 2018
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  5. 5
    The Epilepsy Phenome/Genome Project

    The Epilepsy Phenome/Genome Project by Kathleen R. McGovern, Nora Stillman, Kevin E. McKenna, Vickie M. Mays, Michael Williams, Alan Carpenter, Kevin F. Miller, Prashant Agarwal, J O Caceres S Manzoor S Moncayo J A Ayala, Cate Bakey, Thomas Borkowski, Riann Boyd, Alicia Camuto, Cendy Carrasco, Jennifer Cassarly, Yong Collins, Kevin Collon, Sean Collon, Heather Eckman, Susan Fogarty, Dolores González Morón, La June Grayson, Samantha Hagopian, Emily Hayden, Kristin Heggeli, Rachel Hennessy, Jody Hessling, Emily Hirschfield, Jennifer L. Howell, Sherry Klingerman, M Canelón de López, Heather Marinelli, Brandy Maschhaupt, Jennie Minnick, Jade Misajon, Jennifer L. Monahan, Karen Oliver, Isha Parulkar, Laura Przepiorka, Paula L. Pyzik, Brigid M. Regan, Catherine Shain, Lexie Slingerland, Caitlin Stanton, Kelly Taylor, Stacy Thompson, Jennifer Turczyk, Alexander D. Vara, Cindy Wesolowski, Andrew Yourich

    Published 2013
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  6. 6
    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability by Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau, Thomas Besnard, Thomas X. Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer Humberson, Laurie Robak, Daryl A. Scott, V. Reid Sutton, Cara Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zárate, Malin Kvarnung, Kevin P. Lally, Peggy Kulch, Brina Daniels, Andrés Hernández, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer A. Sullivan, Madeleine R. Geisheker, Asbjørg Stray‐Pedersen, Jennifer Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth M. Kalb, Megha Desai, Ashley H. Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep Coban‐Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza H. Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne‐Sophie Denommé‐Pichon, Claude Férec

    Published 2019
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