학술논문
'학술논문'
에서 검색결과 62건 | 목록
1~10
Academic Journal
Yeo, Mildrid; Rehsi, Preeya; Dorman, Megan; Grunewald, Stephanie; Baruteau, Julien; Chakrapani, Anupam; Footitt, Emma; Prunty, Helen; McSweeney, Melanie
Journal of Inherited Metabolic Disease Reports; Sep2023, Vol. 64 Issue 5, p317-326, 10p
Academic Journal
Tangeraas, Trine; Constante, Juliana R; Backe, Paul Hoff; Oyarzábal, Alfonso; Neugebauer, Julia; Weinhold, Natalie; Boemer, Francois; Debray, François G; Ozturk-Hism, Burcu; Evren, Gumus; Tuba, Eminoglu F; Ummuhan, Oncul; Footitt, Emma; Davison, James; Martinez, Caroline; Bueno, Clarissa; Machado, Irene; Rodríguez-Pombo, Pilar; Al-Sannaa, Nouriya; Santos, Mariela De Los
Academic Journal
Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K.; Baldwin, Tom; Al-Rashidi, Haya; Touramanidou, Loukia; Duff, Claire; Elkhateeb, Nour; Stepien, Karolina M.; Sharma, Reena; Morris, Andrew; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Batzios, Spyros; Davison, James; Footitt, Emma; Tuschl, Karin; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Finn, Patrick F.; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo G. V.; Frassetto, Andrea; Heales, Simon; Mills, Philippa B.; Gissen, Paul; Clayden, Jonathan D.; Clark, Christopher A.; Eaton, Simon; Kalber, Tammy L.; Baruteau, Julien
Academic Journal
Yeo, Mildrid; Rehsi, Preeya; Dorman, Megan; Grunewald, Stephanie; Baruteau, Julien; Chakrapani, Anupam; Footitt, Emma; Prunty, Helen; Mcsweeney, Melanie
JIMD Reports. March 2022, Vol. 63 Issue 2, p137, 9 p.
Academic Journal
Keshavan, Nandaki; Wood, Michelle; Alderson, Lucy M.; Cortina‐Borja, Mario; Skeath, Rachel; Mcsweeney, Mel; Dixon, Marjorie; Cleary, Maureen A.; Footitt, Emma; Batzios, Spyros
JIMD Reports. March 2022, Vol. 63 Issue 2, p123, 8 p.
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.; Ratmaike, 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.; Baple, Emma; Boustred, Christopher; Brittain, Helen; Burca, Anna de; 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.; Haenden, 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; Groman, Grainne; 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; Patel, Smita; 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; 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
The New England Journal of Medicine. November 11, 2021, Vol. 385 Issue 20, p1868, 13 p.
Periodical
Coughlin, Curtis R.; Tseng, Laura A.; Bok, Levinus A.; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L.K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C.H.; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N.; Lamb, Molly M.; Wijburg, Frits A.; Gospe Jr, Sidney M.; van Karnebeek, Clara
Neurology (Ovid); December 2022, Vol. 99 Issue: 23 pe2627-e2636, 10p
Academic Journal
Wedatilake, Yehani; Niazi, Rojeen; Fassone, Elisa; Powell, Christopher A.; Pearce, Sarah; Plagnol, Vincent; Saldanha, José W.; Kleta, Robert; Kling Chong, W.; Footitt, Emma; Mills, Philippa B.; Taanman, Jan-Willem; Minczuk, Michal; Clayton, Peter T.; Rahman, Shamima; Chong, W Kling
Academic Journal
Macken, William L.; Falabella, Micol; McKittrick, Caroline; Pizzamiglio, Chiara; Ellmers, Rebecca; Eggleton, Kelly; Woodward, Cathy E.; Patel, Yogen; Labrum, Robyn; Phadke, Rahul; Reilly, Mary M.; DeVile, Catherine; Sarkozy, Anna; Footitt, Emma; Davison, James; Rahman, Shamima; Houlden, Henry; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G.; Vandrovcova, Jana; Pitceathly, Robert D. S.; Genomics England Res Consortium
Academic Journal
Darin, Niklas; Reid, Emma; Prunetti, Laurence; Samuelsson, Lena; Husain, Ralf A.; Wilson, Matthew; Yacoubi, Basma El; Footitt, Emma; Chong, W.K.; Wilson, Louise C.; Prunty, Helen; Pope, Simon; Heales, Simon; Lascelles, Karine; Champion, Mike; Wassmer, Evangeline; Veggiotti, Pierangelo; de Crecy-Lagard, Valerie; Mills, Philippa B.; Clayton, Peter T.
American Journal of Human Genetics. Dec, 2016, Vol. 99 Issue 6, p1325, 13 p.
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[AR] Footitt, Emma
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