12 results for Osio,+Deborah

12 results for Osio,+Deborah

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    Author / Creator:Kaplanis, Joanna ; Samocha, Kaitlin E. ; Wiel, Laurens ; Zhang, Zhancheng ; Arvai, Kevin J. ; Eberhardt, Ruth Y. ; Gallone, Giuseppe ; Lelieveld, Stefan H. ; Martin, Hilary C. ; McRae, Jeremy F. ; Short, Patrick J. ; Torene, Rebecca I. ; de Boer, Elke ; Danecek, Petr ; Gardner, Eugene J. ; Huang, Ni ; Lord, Jenny ; Martincorena, Iñigo ; Pfundt, Rolph ; Reijnders, Margot R. F. ; Yeung, Alison ; Yntema, Helger G. ; Vissers, Lisenka E. L. M. ; Juusola, Jane ; Wright, Caroline F. ; Brunner, Han G. ; Firth, Helen V. ; FitzPatrick, David R. ; Barrett, Jeffrey C. ; Hurles, Matthew E. ; Gilissen, Christian ; Retterer, Kyle
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2020-10, Vol.586 (7831), p.757-762
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    Author / Creator:Akawi, Nadia ; McRae, Jeremy ; Ansari, Morad ; Balasubramanian, Meena ; Blyth, Moira ; Brady, Angela F ; Clayton, Stephen ; Cole, Trevor ; Deshpande, Charu ; Fitzgerald, Tomas W ; Foulds, Nicola ; Francis, Richard ; Gabriel, George ; Gerety, Sebastian S ; Goodship, Judith ; Hobson, Emma ; Jones, Wendy D ; Joss, Shelagh ; King, Daniel ; Klena, Nikolai ; Kumar, Ajith ; Lees, Melissa ; Lelliott, Chris ; Lord, Jenny ; McMullan, Dominic ; O'Regan, Mary ; Osio, Deborah ; Piombo, Virginia ; Prigmore, Elena ; Rajan, Diana ; Rosser, Elisabeth ; Sifrim, Alejandro ; Smith, Audrey ; Swaminathan, Ganesh J ; Turnpenny, Peter ; Whitworth, James ; Wright, Caroline F ; Firth, Helen V ; Barrett, Jeffrey C ; Lo, Cecilia W ; FitzPatrick, David R ; Hurles, Matthew E
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature genetics, 2015-11, Vol.47 (11), p.1363-1369
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    Author / Creator:Ragoussis, Vassilis ; Pagnamenta, Alistair T ; Haines, Rebecca L ; Giacopuzzi, Edoardo ; McClatchey, Martin A ; Sampson, Julian R ; Suri, Mohnish ; Gardham, Alice ; Cobben, Jan-Maarten ; Osio, Deborah ; Fry, Andrew E ; Taylor, Jenny C ; Ambrose, J C ; Arumugam, P ; Baple, E L ; Bleda, M ; Boardman-Pretty, F ; Boissiere, J M ; Boustred, C R ; Brittain, H ; Caulfield, M J ; Chan, G C ; Craig, C E H ; Daugherty, L C ; de Burca, A ; Devereau, A ; Elgar, G ; Foulger, R E ; Fowler, T ; Furió-Tarí, P ; Hackett, J M ; Halai, D ; Hamblin, A ; Henderson, S ; Holman, J E ; Hubbard, T J P ; Ibáñez, K ; Jackson, R ; Jones, L J ; Kasperaviciute, D ; Kayikci, M ; Kousathanas, A ; Lahnstein, L ; Lawson, K ; Leigh, S E A ; Leong, I U S ; Lopez, F J ; Maleady-Crowe, F ; Mason, J ; McDonagh, E M ; Moutsianas, L ; Mueller, M ; Murugaesu, N ; Need, A C ; Odhams, C A ; Patch, C ; Pereira, M B ; Perez-Gil, D ; Polychronopoulos, D ; Pullinger, J ; Rahim, T ; Rendon, A ; Riesgo-Ferreiro, P ; Rogers, T ; Ryten, M ; Savage, K ; Sawant, K ; Scott, R H ; Siddiq, A ; Sieghart, A ; Smedley, D ; Smith, K R ; Smith, S C ; Sosinsky, A ; Spooner, W ; Stevens, H E ; Stuckey, A ; Sultana, R ; Thomas, E R A ; Thompson, S R ; Tregidgo, C ; Tucci, A ; Walsh, E ; Watters, S A ; Welland, M J ; Williams, E ; Witkowska, K ; Wood, S M ; Zarowiecki, M
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2022-04, Vol.59 (4), p.366-369
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    Author / Creator:Slevin, Hannah ; Kehinde, Fiona ; Begum-Ali, Jannath ; Ellis, Ceri ; Burkitt-Wright, Emma ; Green, Jonathan ; Johnson, Mark H ; Pasco, Greg ; Charman, Tony ; Jones, Emily J H ; Garg, Shruti
    Publisher:England: BioMed Central Ltd
    Journal title:Molecular autism, 2024-10, Vol.15 (1), p.45-16, Article 45
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    Author / Creator:Wai, Htoo A. ; Lord, Jenny ; Lyon, Matthew ; Gunning, Adam ; Kelly, Hugh ; Cibin, Penelope ; Seaby, Eleanor G. ; Spiers-Fitzgerald, Kerry ; Lye, Jed ; Ellard, Sian ; Thomas, N. Simon ; Bunyan, David J. ; Douglas, Andrew G. L. ; Baralle, Diana
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2020-06, Vol.22 (6), p.1129-1129
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    Author / Creator:Wai, Htoo A ; Lord, Jenny ; Lyon, Matthew ; Gunning, Adam ; Kelly, Hugh ; Cibin Penelope ; Seaby, Eleanor G ; Spiers-Fitzgerald, Kerry ; Lye Jed ; Ellard Sian ; Simon, Thomas N ; Bunyan, David J ; Douglas Andrew G L ; Baralle Diana ; Naik Swati ; Ragge Nicola ; Cox, Helen ; Morton, Jenny ; O’Driscoll Mary ; Lim, Derek ; Osio Deborah ; Elmslie, Frances ; Huber, Camilla ; Hewitt, Julie ; Brandon Heidy ; McEntagart Meriel ; Mansour Sahar ; Lahiri Nayana ; Dempsey, Esther ; Manalo Merrie ; Homfray Tessa ; Saggar Anand ; Li, Jin ; Barwell, Julian ; Chandler, Kate ; Briggs, Tracy ; Douzgou Sofia ; Adlard Julian ; Kraus, Alison ; Mehta Sarju ; Watford, Amy ; Donaldson, Alan ; Low, Karen ; Jones, Gabriela ; Dixit Abhijit ; King, Elizabeth ; Shannon, Nora ; Kaliakatsos Marios ; Joss Shelagh ; Balasubramanian Meena ; Johnson, Diana ; Everest, Sarah ; Salter, Claire ; Harrison, Victoria ; Wise, Gillian ; Torokwa Audrey ; Sands, Victoria ; Pyle, Esther ; Tessy, Thomas ; Lachlan, Katherine ; Foulds, Nicola ; Lotery, Andrew ; Douglas, Andrew ; Hammans Simon ; Pond, Emily ; Horton, Rachel ; Kharbanda Mira ; Hunt, David ; Thomas, Charlene ; Side Lucy ; Willis, Catherine ; Greville-Heygate Stephanie ; Mawby, Rebecca ; Mercer, Catherine ; Temple, Karen ; Kinning Esther ; Bojovic Ognjen ; Archer, L
    Publisher:Bethesda: Elsevier Limited
    Journal title:Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014
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    Author / Creator:Abbasciano, R G ; Barwell, J ; Sayers, R ; Bown, M ; Milewicz, D ; Cooper, G ; Mariscalco, G ; Wheeldon, N ; Fowler, C ; Owens, G ; Murphy, G J
    Publisher:England: BioMed Central Ltd
    Journal title:Current controlled trials in cardiovascular medicine, 2020-07, Vol.21 (1), p.656-656, Article 656
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    ReportsFull Text

    Author / Creator:Slevin, Hannah ; Kehinde, Fiona ; Begum-Ali, Jannath ; Ellis, Ceri ; Burkitt-Wright, Emma ; Green, Jonathan ; Johnson, Mark H ; Pasco, Greg ; Charman, Tony ; Jones, Emily J. H ; Garg, Shruti ; Agyapong, Mary ; Bazelmans, Tessel ; Dafner, Leila ; Ersoy, Mutluhan ; Gliga, Teodora ; Goodwin, Amy ; Haartsen, Rianne ; Halkola, Hanna ; Hendry, Alexandra ; Holman, Rebecca ; Kalwarowsky, Sarah ; Lloyd-Fox, Sarah ; Mason, Luke ; Narvekar, Nisha ; Pirazzoli, Laura ; Taylor, Chloà ; Vassallo, Grace ; Eelloo, Judith ; Evans, D. Gareth ; West, Siobhan ; Hupton, Eileen ; Robinson, Louise ; Lakhani, Neeta ; Wilson, Brian ; Osio, Deborah ; Shaw-Smith, Charles ; Canham, Natalie ; Sharif, Saba
    Publisher:BioMed Central Ltd
    Journal title:Molecular Autism, 2024, Vol.15 (1)
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    Author / Creator:Wright, Caroline F. ; Campbell, Patrick ; Eberhardt, Ruth Y. ; Aitken, Stuart ; Perrett, Daniel ; Brent, Simon ; Danecek, Petr ; Gardner, Eugene J. ; Chundru, V. Kartik ; Lindsay, Sarah J. ; Andrews, Katrina ; Hampstead, Juliet ; Kaplanis, Joanna ; Samocha, Kaitlin E. ; Middleton, Anna ; Foreman, Julia ; Hobson, Rachel J. ; Parker, Michael J. ; Martin, Hilary C. ; FitzPatrick, David R. ; Hurles, Matthew E. ; Firth, Helen V.
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571
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    Author / Creator:Abbasciano, R. G ; Barwell, J ; Sayers, R ; Bown, M ; Milewicz, D ; Cooper, G ; Mariscalco, G ; Wheeldon, N ; Fowler, C ; Owens, G ; Murphy, G. J ; Cooper, Graham ; Fowler, Catherine ; Callaway, Mark ; Chelliah, Rajesh ; Deshpande, Aparna ; Khoo, Jeffrey ; McCann, Gerry ; Rao, Praveen ; Bown, Matthew ; Milewicz, Dianna ; Dorkins, Huw ; Field, Mark ; Fletcher-Francis, Catherine ; Grover, Cliff ; Mariscalco, Giovanni ; Suzuki, Toru ; Yasbeck, Amy ; Barwell, Julian ; English, Karen ; Robertson, Noelle ; Cotton, Anne ; Gunn, Sarah ; McKay, Victoria ; Oo, Aung ; Osio, Deborah ; Shannon, Nora ; Sharif, Saba ; Wheeldon, Nigel ; Sayers, Rob ; Owens, Gareth ; Sweeting, Michael ; Brookes, Cassandra ; Kumar, Tracy ; Lai, Florence ; Murphy, Gavin
    Publisher:BioMed Central Ltd
    Journal title:Trials, 2020, Vol.21 (1)
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    Author / Creator:Wai, Htoo A. ; Lord, Jenny ; Lyon, Matthew ; Gunning, Adam ; Kelly, Hugh ; Cibin, Penelope ; Seaby, Eleanor G. ; Spiers-Fitzgerald, Kerry ; Lye, Jed ; Ellard, Sian ; Thomas, N. Simon ; Bunyan, David J. ; Douglas, Andrew G. L. ; Baralle, Diana
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014
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    Author / Creator:Martin, Hilary C. ; Gardner, Eugene J. ; Samocha, Kaitlin E. ; Kaplanis, Joanna ; Akawi, Nadia ; Sifrim, Alejandro ; Eberhardt, Ruth Y. ; Tavares, Ana Lisa Taylor ; Neville, Matthew D. C. ; Niemi, Mari E. K. ; Gallone, Giuseppe ; McRae, Jeremy ; Wright, Caroline F. ; FitzPatrick, David R. ; Firth, Helen V. ; Hurles, Matthew E.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2021-01, Vol.12 (1), p.627-627, Article 627
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