Výsledky vyhledávání - Mary O’Regan

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  1. 1
    Abnormalities in cardiac and respiratory function observed during seizures in childhood

    Abnormalities in cardiac and respiratory function observed during seizures in childhood Autor Mary O’Regan, J. K. Brown

    Vydáno 2007
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    Artigo
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  2. 2
    <i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy

    <i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy Autor Ricardo Parolin Schnekenberg, Emma Perkins, Jack W. Miller, Wayne I. L. Davies, Maria Cristina D’Adamo, Mauro Pessia, Katherine A. Fawcett, David Sims, Elodie Gillard, K Hudspith, Paul Skehel, Jonathan Williams, Mary O’Regan, Sandeep Jayawant, Rosalind J Jefferson, Sarah Hughes, Andrea Lustenberger, Jiannis Ragoussis, M. T. Jackson, Stephen J. Tucker, Andrea H. Németh

    Vydáno 2015
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    Artigo
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  3. 3
    Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

    Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants Autor Joseph D. Symonds, Katherine S. Elliott, Jay Shetty, Martin Armstrong, Andreas Brunklaus, Ioana Cutcutache, Louise A Diver, Liam Dorris, Sarah L. Gardiner, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Ailsa McLellan, Stewart Macleod, Mary O’Regan, Matthew Page, Elizabeth Pilley, Daniela T. Pilz, Elma Stephen, Kirsty Stewart, Houman Ashrafian, Julian C. Knight, Sameer M. Zuberi

    Vydáno 2021
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  4. 4
    Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

    Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model Autor Andrea H. Németh, Alexandra Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B. E. Becker, Katarzyna D. Bera, Morag Shanks, Lorna Gregory, David Buck, M. Zameel Cader, Kevin Talbot, Rajith de Silva, Nicholas Fletcher, Rob Hastings, Sandeep Jayawant, Patrick J. Morrison, Paul Worth, A. Malcolm R. Taylor, John Tolmie, Mary O’Regan, Ruth A. Valentine, Emily Packham, Julie Evans, A Seller, Jiannis Ragoussis

    Vydáno 2013
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  5. 5
    A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

    A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability Autor Katherine A. Benson, Máire White, Nicholas M. Allen, Susan Byrne, Robert Carton, Elizabeth Comerford, Daniel J. Costello, Colin P. Doherty, Brendan Dunleavey, Hany El‐Naggar, Nisha Gangadharan, Sinéad B. Heavin, Hugh Kearney, Nicholas Lench, John Lynch, Mark McCormack, Mary O’ Regan, Karl Podesta, Kevin Power, Anthony Rogers, Charles A. Steward, Brian Sweeney, David Webb, M Fitzsimons, Marie T. Greally, Norman Delanty, Gianpiero L. Cavalleri

    Vydáno 2020
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  6. 6
    Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

    Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort Autor Joseph D. Symonds, Sameer M. Zuberi, Kirsty Stewart, Ailsa McLellan, Mary O’Regan, Stewart Macleod, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Andreas Brunklaus, Daniela T. Pilz, Jay Shetty, Liam Dorris, Ishaq Abu‐Arafeh, Jamie Andrew, Philip Brink, Mary Callaghan, Jamie Cruden, Louise A Diver, Christine Findlay, Sarah L. Gardiner, Rosemary Grattan, Bethan Lang, Jane MacDonnell, Jean McKnight, Calum A. Morrison, Lesley Nairn, Meghan M. Slean, Elma Stephen, Alan Webb, Angela Vincent, Margaret T. Wilson

    Vydáno 2019
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  7. 7
    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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  8. 8
    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families Autor Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles

    Vydáno 2015
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