학술논문
'학술논문'
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1~10
Academic Journal
Ferdinandusse, Sacha; Waterham, Hans R.; Heales, Simon J. R.; Brown, Garry K.; Hargreaves, Iain P.; Taanman, Jan-Willem; Gunny, Roxana; Abulhoul, Lara; Wanders, Ronald J. A.; Clayton, Peter T.; Leonard, James V.; Rahman, Shamima
Academic Journal
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; Rehmstrom, 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; Graf, 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; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C.; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J.; Humphray, Sean J.; Robinson, Peter N.; Haendel, Melissa; Simpson, Michael A.; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B.; O'Keefe, Raymond T.; Michaelides, Michel; Moore, Anthony T.; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C.; Straub, Volker; Gorman, Grainne S.; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M.; Yu-Wai-Man, Patrick; Turnbull, Doug M.; McFarland, Robert; Taylor, Robert W.; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R.; Polke, James; Wood, Nicholas W.; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Roy, Noemi B. A.; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O.; Seaby, Eleanor G.; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I. Karen; Mumford, Andrew D.; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R.; Brennan, Paul; Burn, John; Chinnery, Patrick F.; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A.; Taylor, Jenny C.; Webster, Andrew R.; Wilkie, Andrew O. M.; Ouwehand, Willem H.; Raymond, F. Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H.; Fowler, Tom; Rendon, Augusto; Caulfield, Mark; 10000 Genomes Project Pilot
Academic Journal
Baruteau, Julien; Jameson, Elisabeth; Morris, Andrew; Chakrapani, Anupam; Santra, Saikat; Vijay, Suresh; Kocadag, Huriye; Beesley, Clare; Grunewald, Stephanie; Murphy, Elaine; Cleary, Maureen; Mundy, Helen; Abulhoul, Lara; Broomfield, Alexander; Lachmann, Robin; Rahman, Yusof; Robinson, Peter; MacPherson, Lesley; Foster, Katharine; Chong, W.
Journal of Inherited Metabolic Disease; May2017, Vol. 40 Issue 3, p357-368, 12p
Academic Journal
Reid, Emma S.; Papandreou, Apostolos; Drury, Suzanne; Boustred, Christopher; Yue, Wyatt W.; Wedatilake, Yehani; Beesley, Clare; Jacques, Thomas S.; Anderson, Glenn; Abulhoul, Lara; Broomfield, Alex; Cleary, Maureen; Grunewald, Stephanie; Varadkar, Sophia M.; Lench, Nick; Rahman, Shamima; Gissen, Paul; Clayton, Peter T.; Mills, Philippa B.
Academic Journal
Heywood, Wendy E.; Camuzeaux, Stephane; Doykov, Ivan; Patel, Nina; Preece, Rhian-Lauren; Footitt, Emma; Cleary, Maureen; Clayton, Peter; Grunewald, Stephanie; Abulhoul, Lara; Chakrapani, Anupam; Sebire, Neil J.; Hindmarsh, Peter; de Koning, Tom J.; Heales, Simon; Burke, Derek; Gissen, Paul; Mills, Kevin
Academic Journal
Broomfield, Alexander; Sweeney, Mary; Woodward, Cathy; Fratter, Carl; Morris, Andrew; Leonard, James; Abulhoul, Lara; Grunewald, Stephanie; Clayton, Peter; Hanna, Michael; Poulton, Joanna; Rahman, Shamima
Journal of Inherited Metabolic Disease; May2015, Vol. 38 Issue 3, p445-457, 13p
Academic Journal
Wei, Wei; Tuna, Salih; Keogh, Michael J.; Smith, Katherine R.; Aitman, Timothy J.; Beales, Phil L.; Bennett, David L.; Gale, Daniel P.; Bitner-Glindzicz, Maria A. K.; Black, Graeme C.; Brennan, Paul; Elliott, Perry; Flinter, Frances A.; Floto, R. Andres; Houlden, Henry; Irving, Melita; Koziell, Ania; Maher, Eamonn R.; Markus, Hugh S.; Morrell, Nicholas W.; Newman, William G.; Roberts, Irene; Sayer, John A.; Smith, Kenneth G. C.; Taylor, Jenny C.; Watkins, Hugh; Webster, Andrew R.; Wilkie, Andrew O. M.; Williamson, Catherine; Attwood, Anthony; Brown, Matthew; Brod, Naomi Clements; Crisp-Hihn, Abigail; Davis, John; Deevi, Sri V. V.; Dewhurst, Eleanor F.; Edwards, Karen; Erwood, Marie; Fox, James; Frary, Amy J.; Hu, Fengyuan; Jolley, Jennifer; Kingston, Nathalie; Linger, Rachel; Mapeta, Rutendo; Martin, Jennifer; Meacham, Stuart; Papadia, Sofia; Rayner-Matthews, Paula J.; Samarghitean, Crina; Shamardina, Olga; Simeoni, Ilenia; Staines, Simon; Staples, Emily; Stark, Hannah; Stephens, Jonathan; Titterton, Catherine; von Ziegenweidt, Julie; Watt, Christopher; Whitehorn, Deborah; Wood, Yvette; Yates, Katherine; Yu, Ping; James, Roger; Ashford, Sofie; Penkett, Christopher J.; Stirrups, Kathleen E.; Bariana, Tadbir; Lentaigne, Claire; Sivapalaratnam, Suthesh; Westbury, Sarah K.; Allsup, David J.; Bakchoul, Tamam; Biss, Tina; Boyce, Sara; Collins, Janine; Collins, Peter W.; Curry, Nicola S.; Downes, Kate; Dutt, Tina; Erber, Wendy N.; Evans, Gillian; Everington, Tamara; Favier, Remi; Gomez, Keith; Greene, Daniel; Gresele, Paolo; Hart, Daniel; Kazmi, Rashid; Kelly, Anne M.; Lambert, Michele; Madan, Bella; Mangles, Sarah; Mathias, Mary; Millar, Carolyn; Obaji, Samya; Peerlinck, Kathelijne; Roughley, Catherine; Schulman, Sol; Scully, Marie; Shapiro, Susan E.; Sibson, Keith; Sims, Matthew C.; Tait, R. Campbell; Talks, Kate; Thys, Chantal; Toh, Cheng-Hock; Van Geet, Chris; Westwood, John-Paul; Mumford, Andrew D.; Ouwehand, Willem H.; Freson, Kathleen; Laffan, Michael A.; Tan, Rhea Y. Y.; Harkness, Kirsty; Mehta, Sarju; Muir, Keith W.; Hassan, Ahamad; Traylor, Matthew; Drazyk, Anna M.; Parry, David; Ahmed, Munaza; Kazkaz, Hanadi; Vandersteen, Anthony M.; Ormondroyd, Elizabeth; Thomson, Kate; Dent, Timothy; Buchan, Rachel J.; Bueser, Teofila; Carr-White, Gerald; Cook, Stuart; Daniels, Matthew J.; Harper, Andrew R.; Ware, James S.; Dixon, Peter H.; Chambers, Jenny; Cheng, Floria; Estiu, Maria C.; Hague, William M.; Marschall, Hanns-Ulrich; Vazquez-Lopez, Marta; Arno, Gavin; French, Courtney E.; Michaelides, Michel; Moore, Anthony T.; Sanchis-Juan, Alba; Carss, Keren; Raymond, F. Lucy; Chinnery, Patrick F.; Griffiths, Philip; Horvath, Rita; Hudson, Gavin; Jurkute, Neringa; Pyle, Angela; Yu-Wai-Man, Patrick; Whitworth, James; Adlard, Julian; Armstrong, Ruth; Brewer, Carole; Casey, Ruth; Cole, Trevor R. P.; Evans, Dafydd Gareth; Greenhalgh, Lynn; Hanson, Helen L.; Hoffman, Jonathan; Izatt, Louise; Kumar, Ajith; Lalloo, Fiona; Ong, Kai Ren; Park, Soo-Mi; Searle, Claire; Side, Lucy; Snape, Katie; Woodward, Emma; Tischkowitz, Marc; Grozeva, Detelina; Kurian, Manju A.; Themistocleous, Andreas C.; Gosal, David; Marshall, Andrew; Matthews, Emma; McCarthy, Mark I.; Renton, Tara; Rice, Andrew S. C.; Vale, Tom; Walker, Suellen M.; Woods, Christopher Geoffrey; Thaventhiran, James E.; Allen, Hana Lango; Savic, Sinisa; Alachkar, Hana; Antrobus, Richard; Baxendale, Helen E.; Browning, Michael J.; Buckland, Matthew S.; Cooper, Nichola; Edgar, J. David M.; Egner, William; Gilmour, Kimberly C.; Goddard, Sarah; Gordins, Pavels; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Hayman, Grant; Herwadkar, Archana; Huissoon, Aarnoud P.; Jolles, Stephen; Kelleher, Peter; Kumararatne, Dinakantha; Longhurst, Hilary; Lorenzo, Lorena E.; Lyons, Paul A.; Maimaris, Jesmeen; Noorani, Sadia; Richter, Alex; Sargur, Ravishankar B.; Sewell, W. A. Carrock; Thomas, David; Thomas, Moira J.; Worth, Austen; Yong, Patrick F. K.; Kuijpers, Taco W.; Thrasher, Adrian J.; Levine, Adam P.; Sadeghi-Alavijeh, Omid; Wong, Edwin K. S.; Cook, H. Terence; Chan, Melanie M. Y.; Hall, Matthew; Harris, Claire; McAlinden, Paul; Marchbank, Kevin J.; Marks, Stephen; Maxwell, Heather; Mozere, Monika; Wessels, Julie; Johnson, Sally A.; Bleda, Marta; Hadinnapola, Charaka; Haimel, Matthias; Swietlik, Emilia; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul; Danesino, Cesare; Eyries, Melanie; Gall, Henning; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Girerd, Barbara; Holden, Simon; Houweling, Arjan; Howard, Luke S.; Humbert, Marc; Kiely, David G.; Kovacs, Gabor; Lawrie, Allan; Ross, Robert V. MacKenzie; Moledina, Shahin; Montani, David; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Peacock, Andrew; Pepke-Zaba, Joanna; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Suntharalingam, Jay; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Wharton, John; Wilkins, Martin R.; Wort, Stephen J.; Graf, Stefan; Louka, Eleni; Roy, Noemi B.; Rao, Anupama; Ancliff, Philip; Babbs, Christian; Layton, D. Mark; Mead, Adam J.; O'Sullivan, Jennifer; Okoli, Steven; Saleem, Moin; Bierzynska, Agnieszka; Diz, Carmen Bugarin; Colby, Elizabeth; Ekani, Melanie N.; Satchell, Simon; Fowler, Tom; Rendon, Augusto; Scott, Richard; Smedley, Damian; Thomas, Ellen; Caulfield, Mark; Abbs, Stephen; Burrows, Nigel; Chitre, Manali; Gattens, Michael; Gurnell, Mark; Kelsall, Wilf; Poole, Ken E. S.; Ross-Russell, Robert; Spasic-Boskovic, Olivera; Twiss, Philip; Wagner, Annette; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Cleary, Maureen; Dattani, Mehul; Ganesan, Vijeya; Pilkington, Clarissa; Rahman, Shamima; Shah, Neil; Wedderburn, Lucy; Compton, Cecilia J.; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Josifova, Dragana; Mohammed, Shehla N.; Robert, Leema; Rose, Sarah J.; Ruddy, Deborah M.; Sarkany, Robert N.; Sayer, Genevieve; Shaw, Adam C.; Campbell, Carolyn; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Patel, Smita; Sen, Arjune; Taylor, John; Tomlinson, Ian P.; Malka, Samantha; Browning, Andrew C.; Burn, John; De Soyza, Anthony; Graham, Jodie; Pearce, Simon; Quinton, Richard; Schaefer, Andrew M.; Wilson, Brian T.; Wright, Michael; Simpson, Michael; Syrris, Petros; Bradley, John R.; Turro, Ernest; NIHR BioResource-Rare Dis; 100000 Genomes Project-Rare Dis
Academic Journal
Sridhar, Arani; Bhandari, Jasjit K.; Lewis, Gareth; Ganesan, Subramanian; Parepalli, Srinivas; Abulhoul, Lara
BMJ Case Reports; Apr2012, p1-4, 4p
Academic Journal
Glamuzina, Emma; Fettes, Emma; Bainbridge, Katie; Crook, Victoria; Finnegan, Niamh; Abulhoul, Lara; Vellodi, Ashok
Journal of Inherited Metabolic Disease; Jun2011, Vol. 34 Issue 3, p749-754, 6p
Academic Journal
Journal of Infection. August, 2005, Vol. 51 Issue 2, pE1
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