41 results for Douzgou,+Sofia

41 results for Douzgou,+Sofia

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    Author / Creator:Jiman, Omamah A. ; Taylor, Rachel L. ; Lenassi, Eva ; Smith, Jill Clayton ; Douzgou, Sofia ; Ellingford, Jamie M. ; Barton, Stephanie ; Hardcastle, Claire ; Fletcher, Tracy ; Campbell, Christopher ; Ashworth, Jane ; Biswas, Susmito ; Ramsden, Simon C. ; Manson, Forbes D. ; Black, Graeme C.
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.576-586
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    Author / Creator:Lenassi, Eva ; Clayton-Smith, Jill ; Douzgou, Sofia ; Ramsden, Simon C. ; Ingram, Stuart ; Hall, Georgina ; Hardcastle, Claire L. ; Fletcher, Tracy A. ; Taylor, Rachel L. ; Ellingford, Jamie M. ; Newman, William D. ; Fenerty, Cecilia ; Sharma, Vinod ; Lloyd, I. Chris ; Biswas, Susmito ; Ashworth, Jane L. ; Black, Graeme C. ; Sergouniotis, Panagiotis I.
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2020-04, Vol.22 (4), p.745-751
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    Author / Creator:Wood, Katherine A. ; Rowlands, Charlie F. ; Thomas, Huw B. ; Woods, Steven ; O’Flaherty, Julieta ; Douzgou, Sofia ; Kimber, Susan J. ; Newman, William G. ; O’Keefe, Raymond T.
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2020-07, Vol.15 (7), p.e0233582
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    Author / Creator:Taylor, Rachel L. ; Soriano, Carla Sanjuro ; Williams, Simon ; Dzulova, Denisa ; Ashworth, Jane ; Hall, Georgina ; Gale, Theodora ; Lloyd, I. Christopher ; Inglehearn, Chris F. ; Toomes, Carmel ; Douzgou, Sofia ; Black, Graeme C.
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.110-110, Article 110
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    Author / Creator:Smith, Michael ; Alexander, Elizabeth ; Marcinkute, Ruta ; Dan, Dorica ; Rawson, Myfanwy ; Banka, Siddharth ; Gavin, Jason ; Mina, Hany ; Hennessy, Con ; Riccardi, Florence ; Radio, Francesca Clementina ; Havlovicova, Marketa ; Cassina, Matteo ; Emandi, Adela Chirita ; Fradin, Melanie ; Gompertz, Lianne ; Nordgren, Ann ; Traberg, Rasa ; Rossi, Massimiliano ; Trimouille, Aurelién ; Sowmyalakshmi, Rasika ; Dallapiccola, Bruno ; Renieri, Alessandra ; Faivre, Laurence ; Kerr, Bronwyn ; Verloes, Alain ; Clayton-Smith, Jill ; Douzgou, Sofia
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.103-103, Article 103
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    Author / Creator:Lenassi, Eva ; Clayton-Smith, Jill ; Douzgou, Sofia ; Ramsden, Simon C. ; Ingram, Stuart ; Hall, Georgina ; Hardcastle, Claire L. ; Fletcher, Tracy A. ; Taylor, Rachel L. ; Ellingford, Jamie M. ; Newman, William D. ; Fenerty, Cecilia ; Sharma, Vinod ; Lloyd, I. Chris ; Biswas, Susmito ; Ashworth, Jane L. ; Black, Graeme C. ; Sergouniotis, Panagiotis I.
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2021-10, Vol.23 (10), p.2023-2023
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    Author / Creator:Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi ; Swagemakers, Sigrid M. A. ; Koelling, Nils ; McGowan, Simon J. ; Phipps, Julie M. ; Balasubramanian, Meena ; Cunningham, Michael L. ; Douzgou, Sofia ; Lattanzi, Wanda ; Morton, Jenny E. V. ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C. ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A. ; Twigg, Stephen R. F. ; Mathijssen, Irene M. J. ; Boardman-Pretty, Freya ; Boyadjiev, Simeon A. ; Wilkie, Andrew O. M.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1567-1567
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    Author / Creator:Levy, Michael A. ; Beck, David B. ; Metcalfe, Kay ; Douzgou, Sofia ; Sithambaram, Sivagamy ; Cottrell, Trudie ; Ansar, Muhammad ; Kerkhof, Jennifer ; Mignot, Cyril ; Nougues, Marie-Christine ; Keren, Boris ; Moore, Hannah W. ; Oegema, Renske ; Giltay, Jacques C. ; Simon, Marleen ; van Jaarsveld, Richard H. ; Bos, Jessica ; van Haelst, Mieke ; Motazacker, M. Mahdi ; Boon, Elles M. J. ; Santen, Gijs W. E. ; Ruivenkamp, Claudia A. L. ; Alders, Marielle ; Luperchio, Teresa Romeo ; Boukas, Leandros ; Ramsey, Keri ; Narayanan, Vinodh ; Schaefer, G. Bradley ; Bonasio, Roberto ; Doheny, Kimberly F. ; Stevenson, Roger E. ; Banka, Siddharth ; Sadikovic, Bekim ; Fahrner, Jill A.
    Publisher:London: Nature Publishing Group UK
    Journal title:Npj genomic medicine, 2021-11, Vol.6 (1), p.100-100, Article 100
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    Author / Creator:Smedley, Damian ; Smith, Katherine R ; Martin, Antonio ; Thomas, Ellen A ; McDonagh, Ellen M ; Cipriani, Valentina ; Ellingford, Jamie M ; Arno, Gavin ; Tucci, Arianna ; Vandrovcova, Jana ; Chan, Georgia ; Williams, Hywel J ; Ratnaike, Thiloka ; Wei, Wei ; Stirrups, Kathleen ; Ibanez, Kristina ; Moutsianas, Loukas ; Wielscher, Matthias ; Need, Anna ; Barnes, Michael R ; Vestito, Letizia ; Buchanan, James ; Wordsworth, Sarah ; Ashford, Sofie ; Rehmström, Karola ; Li, Emily ; Fuller, Gavin ; Twiss, Philip ; Spasic-Boskovic, Olivera ; Halsall, Sally ; Floto, R Andres ; Poole, Kenneth ; Wagner, Annette ; Mehta, Sarju G ; Gurnell, Mark ; Burrows, Nigel ; James, Roger ; Penkett, Christopher ; Dewhurst, Eleanor ; Gräf, Stefan ; Mapeta, Rutendo ; Kasanicki, Mary ; Haworth, Andrea ; Savage, Helen ; Babcock, Melanie ; Reese, Martin G ; Bale, Mark ; Baple, Emma ; Boustred, Christopher ; Brittain, Helen ; de Burca, Anna ; Bleda, Marta ; Devereau, Andrew ; Halai, Dina ; Haraldsdottir, Eik ; Hyder, Zerin ; Kasperaviciute, Dalia ; Patch, Christine ; Polychronopoulos, Dimitris ; Matchan, Angela ; Sultana, Razvan ; Ryten, Mina ; Tavares, Ana L T ; Tregidgo, Carolyn ; Turnbull, Clare ; Welland, Matthew ; Wood, Suzanne ; Snow, Catherine ; Williams, Eleanor ; Leigh, Sarah ; Foulger, Rebecca E ; Daugherty, Louise C ; Niblock, Olivia ; Leong, Ivone U S ; Wright, Caroline F ; Davies, Jim ; Crichton, Charles ; Welch, James ; Woods, Kerrie ; Abulhoul, Lara ; Aurora, Paul ; Bockenhauer, Detlef ; Broomfield, Alexander ; Cleary, Maureen A ; Lam, Tanya ; Dattani, Mehul ; Footitt, Emma ; Ganesan, Vijeya ; Grunewald, Stephanie ; Compeyrot-Lacassagne, Sandrine ; Muntoni, Francesco ; Pilkington, Clarissa ; Quinlivan, Rosaline ; Thapar, Nikhil ; Wallis, Colin ; Wedderburn, Lucy R ; Worth, Austen ; Bueser, Teofila ; Compton, Cecilia ; Deshpande, Charu
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2021-11, Vol.385 (20), p.1868-1880
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    Author / Creator:Douzgou, Sofia ; Mingarelli, Rita ; Tarani, Luigi ; De Crescenzo, Agostina ; Riccio, Andrea
    Publisher:United States
    Journal title:Pediatric and developmental pathology, 2008-07, Vol.11 (4), p.329-331
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    Author / Creator:Campbell, Patrick ; Ellingford, Jamie M. ; Parry, Neil R. A. ; Fletcher, Tracy ; Ramsden, Simon C. ; Gale, Theodora ; Hall, Georgina ; Smith, Katherine ; Kasperaviciute, Dalia ; Thomas, Ellen ; Lloyd, I. Chris ; Douzgou, Sofia ; Clayton-Smith, Jill ; Biswas, Susmito ; Ashworth, Jane L. ; Black, Graeme C. M. ; Sergouniotis, Panagiotis I.
    Publisher:London: Nature Publishing Group UK
    Journal title:Scientific reports, 2019-11, Vol.9 (1), p.16576-10, Article 16576
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    Author / Creator:Molina-Ramírez, Leslie Patricia ; Kyle, Claire ; Ellingford, Jamie M ; Wright, Ronnie ; Taylor, Algy ; Bhaskar, Sanjeev S ; Campbell, Christopher ; Jackson, Harriet ; Fairclough, Adele ; Rousseau, Abigail ; Burghel, George J ; Dutton, Laura ; Banka, Siddharth ; Briggs, Tracy A ; Clayton-Smith, Jill ; Douzgou, Sofia ; Jones, Elizabeth A ; Kingston, Helen M ; Kerr, Bronwyn ; Ealing, John ; Somarathi, Suresh ; Chandler, Kate E ; Stuart, Helen M ; Burkitt-Wright, Emma MM ; Newman, William G ; Bruce, Iain A ; Black, Graeme C ; Gokhale, David
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2022-04, Vol.59 (4), p.393-398
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    Author / Creator:Lacombe, Didier ; Bloch-Zupan, Agnès ; Bredrup, Cecilie ; Cooper, Edward B ; Houge, Sofia Douzgou ; García-Miñaúr, Sixto ; Kayserili, Hülya ; Larizza, Lidia ; Lopez Gonzalez, Vanesa ; Menke, Leonie A ; Milani, Donatella ; Saettini, Francesco ; Stevens, Cathy A ; Tooke, Lloyd ; Van der Zee, Jill A ; Van Genderen, Maria M ; Van-Gils, Julien ; Waite, Jane ; Adrien, Jean-Louis ; Bartsch, Oliver ; Bitoun, Pierre ; Bouts, Antonia H M ; Cueto-González, Anna M ; Dominguez-Garrido, Elena ; Duijkers, Floor A ; Fergelot, Patricia ; Halstead, Elizabeth ; Huisman, Sylvia A ; Meossi, Camilla ; Mullins, Jo ; Nikkel, Sarah M ; Oliver, Chris ; Prada, Elisabetta ; Rei, Alessandra ; Riddle, Ilka ; Rodriguez-Fonseca, Cristina ; Rodríguez Pena, Rebecca ; Russell, Janet ; Saba, Alicia ; Santos-Simarro, Fernando ; Simpson, Brittany N ; Smith, David F ; Stevens, Markus F ; Szakszon, Katalin ; Taupiac, Emmanuelle ; Totaro, Nadia ; Valenzuena Palafoll, Irene ; Van Der Kaay, Daniëlle C M ; Van Wijk, Michiel P ; Vyshka, Klea ; Wiley, Susan ; Hennekam, Raoul C
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2024-06, Vol.61 (6), p.503-519
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    Author / Creator:Mao, Ke ; Borel, Christelle ; Ansar, Muhammad ; Jolly, Angad ; Makrythanasis, Periklis ; Froehlich, Christine ; Iwaszkiewicz, Justyna ; Wang, Bingqing ; Xu, Xiaopeng ; Li, Qiang ; Blanc, Xavier ; Zhu, Hao ; Chen, Qi ; Jin, Fujun ; Ankamreddy, Harinarayana ; Singh, Sunita ; Zhang, Hongyuan ; Wang, Xiaogang ; Chen, Peiwei ; Ranza, Emmanuelle ; Paracha, Sohail Aziz ; Shah, Syed Fahim ; Guida, Valentina ; Piceci-Sparascio, Francesca ; Melis, Daniela ; Dallapiccola, Bruno ; Digilio, Maria Cristina ; Novelli, Antonio ; Magliozzi, Monia ; Fadda, Maria Teresa ; Streff, Haley ; Machol, Keren ; Lewis, Richard A. ; Zoete, Vincent ; Squeo, Gabriella Maria ; Prontera, Paolo ; Mancano, Giorgia ; Gori, Giulia ; Mariani, Milena ; Selicorni, Angelo ; Psoni, Stavroula ; Fryssira, Helen ; Douzgou, Sofia ; Marlin, Sandrine ; Biskup, Saskia ; De Luca, Alessandro ; Merla, Giuseppe ; Zhao, Shouqin ; Cox, Timothy C. ; Groves, Andrew K. ; Lupski, James R. ; Zhang, Qingguo ; Zhang, Yong-Biao ; Antonarakis, Stylianos E.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2023-04, Vol.14 (1), p.2026-2026, Article 2026
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    Author / Creator:Douzgou, Sofia ; Dell’Oro, Janet ; Fonseca, Cristina Rodriguez ; Rei, Alessandra ; Mullins, Jo ; Jusiewicz, Isabelle ; Huisman, Sylvia ; Simpson, Brittany N. ; Vyshka, Klea ; Milani, Donatella ; Bartsch, Oliver ; Lacombe, Didier ; García-Miñaúr, Sixto ; Hennekam, Raoul C. M.
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2022-07, Vol.30 (7), p.841-847
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    Author / Creator:Reijnders, Margot R F ; Janowski, Robert ; Alvi, Mohsan ; Self, Jay E ; van Essen, Ton J ; Vreeburg, Maaike ; Rouhl, Rob P W ; Stevens, Servi J C ; Stegmann, Alexander P A ; Schieving, Jolanda ; Pfundt, Rolph ; van Dijk, Katinke ; Smeets, Eric ; Stumpel, Connie T R M ; Bok, Levinus A ; Cobben, Jan Maarten ; Engelen, Marc ; Mansour, Sahar ; Whiteford, Margo ; Chandler, Kate E ; Douzgou, Sofia ; Cooper, Nicola S ; Tan, Ene-Choo ; Foo, Roger ; Lai, Angeline H M ; Rankin, Julia ; Green, Andrew ; Lönnqvist, Tuula ; Isohanni, Pirjo ; Williams, Shelley ; Ruhoy, Ilene ; Carvalho, Karen S ; Dowling, James J ; Lev, Dorit L ; Sterbova, Katalin ; Lassuthova, Petra ; Neupauerová, Jana ; Waugh, Jeff L ; Keros, Sotirios ; Clayton-Smith, Jill ; Smithson, Sarah F ; Brunner, Han G ; van Hoeckel, Ceciel ; Anderson, Mel ; Clowes, Virginia E ; Siu, Victoria Mok ; DDD study, The ; Selber, Paulo ; Leventer, Richard J ; Nellaker, Christoffer ; Niessing, Dierk ; Hunt, David ; Baralle, Diana
    Publisher:England: BMJ Publishing Group Ltd
    Journal title:Journal of medical genetics, 2018-02, Vol.55 (2), p.104-113
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    Author / Creator:Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi ; Swagemakers, Sigrid M. A. ; Koelling, Nils ; McGowan, Simon J. ; Phipps, Julie M. ; Balasubramanian, Meena ; Cunningham, Michael L. ; Douzgou, Sofia ; Lattanzi, Wanda ; Morton, Jenny E. V. ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C. ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A. ; Twigg, Stephen R. F. ; Mathijssen, Irene M. J. ; Boardman-Pretty, Freya ; Boyadjiev, Simeon A. ; Wilkie, Andrew O. M.
    Publisher:New York: Nature Publishing Group US
    Journal title:Genetics in medicine, 2020-09, Vol.22 (9), p.1498-1506
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    Author / Creator:Ghosh, Arunabha ; Schlecht, Helene ; Heptinstall, Lesley E ; Bassett, John K ; Cartwright, Eleanor ; Bhaskar, Sanjeev S ; Urquhart, Jill ; Broomfield, Alexander ; Morris, Andrew AM ; Jameson, Elisabeth ; Schwahn, Bernd C ; Walter, John H ; Douzgou, Sofia ; Murphy, Helen ; Hendriksz, Chris ; Sharma, Reena ; Wilcox, Gisela ; Crushell, Ellen ; Monavari, Ardeshir A ; Martin, Richard ; Doolan, Anne ; Senniappan, Senthil ; Ramsden, Simon C ; Jones, Simon A ; Banka, Siddharth
    Publisher:England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
    Journal title:Archives of disease in childhood, 2017-11, Vol.102 (11), p.1019-1029
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    Author / Creator:Balasubramanian, Meena ; Dingemans, Alexander J. M. ; Albaba, Shadi ; Richardson, Ruth ; Yates, Thabo M. ; Cox, Helen ; Douzgou, Sofia ; Armstrong, Ruth ; Sansbury, Francis H. ; Burke, Katherine B. ; Fry, Andrew E. ; Ragge, Nicola ; Sharif, Saba ; Foster, Alison ; De Sandre-Giovannoli, Annachiara ; Elouej, Sahar ; Vasudevan, Pradeep ; Mansour, Sahar ; Wilson, Kate ; Stewart, Helen ; Heide, Solveig ; Nava, Caroline ; Keren, Boris ; Demirdas, Serwet ; Brooks, Alice S. ; Vincent, Marie ; Isidor, Bertrand ; Küry, Sebastien ; Schouten, Meyke ; Leenders, Erika ; Chung, Wendy K. ; Haeringen, Arie van ; Scheffner, Thomas ; Debray, Francois-Guillaume ; White, Susan M. ; Palafoll, Maria Irene Valenzuela ; Pfundt, Rolph ; Newbury-Ecob, Ruth ; Kleefstra, Tjitske
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.625-636
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    Author / Creator:Turnpenny, Peter ; Zschocke, Johannes ; Dan, Dorica ; Houge, Sofia Douzgou ; Faivre, Laurence ; Hennekam, Raoul ; Hugon, Anne ; Kleefstra, Tjitske ; Manunta, Andrea ; Mosiello, Giovanni ; Renieri, Alessandra ; Sundqvist, Ammi ; Tartaglia, Marco ; Tumer, Zeynep ; Tumiene, Birute ; Wieczorek, Dagmar ; Vissers, Lisenka ; Vyshka, Klea ; Zampino, Giuseppe ; Verloes, Alain ; Selatnia, Sarra ; Berg, Jonathan ; Clayton-Smith, Jill ; Genuardi, Maurizio ; Krahn, Martin ; Moog, Ute ; Tobias, Edward
    Publisher:Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2022, Vol.30 (SUPPL 1, 1), p.562-563
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