Výsledky vyhledávání - Eleanor Reavey

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  1. 1
    Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

    Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome Autor Andreas Brunklaus, Rachael Ellis, Eleanor Reavey, GORDON FORBES, Sameer M. Zuberi

    Vydáno 2012
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    Artigo
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  2. 2
    The clinical utility of an <i>SCN1A</i> genetic diagnosis in infantile‐onset epilepsy

    The clinical utility of an <i>SCN1A</i> genetic diagnosis in infantile‐onset epilepsy Autor Andreas Brunklaus, Liam Dorris, Rachael Ellis, Eleanor Reavey, Elizabeth Lee, GORDON FORBES, Richard Appleton, J. Helen Cross, Colin D. Ferrie, Imelda Hughes, Alice Jollands, Mary D. King, John Livingston, Bryan Lynch, Sunny Philip, Ingrid E. Scheffer, Ruth Williams, Sameer M. Zuberi

    Vydáno 2012
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    Artigo
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  3. 3
    Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

    Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy Autor Costin Leu, Simona Balestrini, Bridget H. Maher, Laura Hernandez‐Hernandez, Padhraig Gormley, Eija Hämäläinen, Kristin Heggeli, Natasha E. Schoeler, Jan Nový, Joseph Willis, Vincent Plagnol, Rachael Ellis, Eleanor Reavey, Mary O’Regan, William Owen Pickrell, Rhys H. Thomas, Seo‐Kyung Chung, Norman Delanty, Jacinta M. McMahon, Stephen Malone, Lynette G. Sadleir, Samuel F. Berkovic, Lina Nashef, Sameer M. Zuberi, Mark I. Rees, Gianpiero L. Cavalleri, Josemir W. Sander, Elaine Hughes, J. Helen Cross, Ingrid E. Scheffer, Aarno Palotie, Sanjay M. Sisodiya

    Vydáno 2015
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  4. 4
    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Evidence for 28 genetic disorders discovered by combining healthcare and research data Autor Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer

    Vydáno 2020
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  5. 5
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders Autor Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw‐Smith, Claire Turner, Peter D. Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson

    Vydáno 2021
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