학술논문
'학술논문'
에서 검색결과 112건 | 목록
1~10
Periodical
McDevitt, Trudi; Durkie, Miranda; Arnold, Norbert; Burghel, George J.; Butler, Samantha; Claes, Kathleen B. M.; Logan, Peter; Robinson, Rachel; Sheils, Katie; Wolstenholme, Nicola; Hanson, Helen; Turnbull, Clare; Hume, Stacey
European Journal of Human Genetics: EJHG; May 2024, Vol. 32 Issue: 5 p479-488, 10p
Academic Journal
Pagnamenta, A.T.; Yu, J.; Dutta, P.; Hashim, M.; Camps, C.; Uhlig, H.H.; Taylor, J.C.; Walker, S.; Noble, A.J.; East, J.E.; Lord, J.; Baralle, D.; Green, H.; Fratter, C.; Banos-Pinero, B.; Taylor, J.; Bedenham, T.; Devaiah, S.; Blair, E.; Stewart, H.; Nashef, L.; Parr, J.; Ibnouf Hussein, R.; Lalloo, F.; Perez-Becerril, C.; Jackson, A.; Banka, S.; Evans, D.G.; Burghel, G.J.; Smith, M.J.; Lindsay, S.J.; Firth, H.; Evans, D.; Mallin, L.; Ellard, S.; Waite, A.; Evans, J.; Newman, A.; Rogers, M.T.; Allen, Z.; Ryan, G.; Hart, R.; Higgs, J.; Canham, N.; Anderson, E.; Clement, E.; Hay, E.; Wilson, L.; Gardham, A.; Forzano, F.; Majumdar, A.; McEntagart, M.; Lahiri, N.; Smithson, S.; Calpena, E.; Titheradge, H.; Igbokwe, R.; McGowan, R.; Rankin, J.; Shaw-Smith, C.; Madhu, R.; Brennan, P.; Anderson, C.; Taupin, D.; Cook, J.A.; Durkie, M.; Fowler, D.; Tomlinson, I.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 6 June 2024, 111(6):1140-1164)
Academic Journal
In: Nephrology Dialysis Transplantation . (Nephrology Dialysis Transplantation, 1 June 2024, 39(6):956-966)
Periodical
Allen, Sophie; Loong, Lucy; Garrett, Alice; Torr, Bethany; Durkie, Miranda; Drummond, James; Callaway, Alison; Robinson, Rachel; Burghel, George J; Hanson, Helen; Field, Joanne; McDevitt, Trudi; McVeigh, Terri P; Bedenham, Tina; Bowles, Christopher; Bradshaw, Kirsty; Brooks, Claire; Butler, Samantha; Del Rey Jimenez, Juan Carlos; Hawkes, Lorraine; Stinton, Victoria; MacMahon, Suzanne; Owens, Martina; Palmer-Smith, Sheila; Smith, Kenneth; Tellez, James; Valganon-Petrizan, Mikel; Waskiewicz, Erik; Yau, Michael; Eccles, Diana M; Tischkowitz, Marc; Goel, Shilpi; McRonald, Fiona; Antoniou, Antonis C; Morris, Eva; Hardy, Steven; Turnbull, Clare
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 4 p305-312, 8p
Academic Journal
Cubuk, C.; Garrett, A.; Choi, S.; King, L.; Loveday, C.; Torr, B.; Burghel, G. J.; Durkie, M.; Callaway, A.; Robinson, R.; Drummond, J.; Berry, I; Wallace, A.; Eccles, D.; Tischkowitz, M.; Whiffin, N.; Ware, J. S.; Hanson, H.; Turnbull, C.; CanVIG-UK
Academic Journal
Loong, L.; Huntley, C.; Torr, B.; Allen, S.; Garrett, A.; McVeigh, T.P.; Turnbull, C.; McRonald, F.; Santaniello, F.; Pethick, J.; Tulloch, O.; Goel, S.; Shand, B.; Rahman, T.; Luchtenborg, M.; Hardy, S.; Barber, R.; Butler, S.; Bedenham, T.; Petrides, E.; Bourn, D.; Tellez, J.; Bradshaw, K.; Field, J.; Brooks, C.; Jenkins, L.; Bruty, J.; Drummond, J.; Burghel, G.J.; Wallace, A.J.; Evans, D.G.; Lalloo, F.; Buxton, C.; Yarram-Smith, L.; Callaway, A.; Callaway, J.; Durkie, M.; Nyanhete, R.; Mountford, R.; Stinton, V.; Robinson, R.; Scott, T.; Sahan, K.; Hallowell, N.; Eccles, D.M.; Pharoah, P.; Tischkowitz, M.; Antoniou, A.C.; Norbury, G.; Morris, E.; Burn, J.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 July 2023, 60(7):669-678)
Periodical
Hanson, Helen; Durkie, Miranda; Lalloo, Fiona; Izatt, Louise; McVeigh, Terri P; Cook, Jackie A; Brewer, Carole; Drummond, James; Butler, Samantha; Cranston, Treena; Casey, Ruth; Tan, Tricia; Morganstein, Daniel; Eccles, Diana M; Tischkowitz, Marc; Turnbull, Clare; Woodward, Emma Roisin; Maher, Eamonn R
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 2 p107-111, 5p
Academic Journal
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. December 2010 33(3):215-218
Academic Journal
Durkie, M.; Winship, P.; Hogg, A.-C.; Nyanhete, R.; Watson, C.M.; Cooley, S.; Valluru, M.K.; Ong, A.C.M.; Shaw-Smith, C.; Bingham, C.; Gilchrist, M.; Kenny, J.; Consortium, G.E.R.
In: Human Mutation . (Human Mutation, 2023, 2023)
Academic Journal
Hanson, H.; Lalloo, F.; Woodward, E.R.; Cranston, T.; McVeigh, T.P.; Izatt, L.; Drummond, J.; Durkie, M.; Brewer, C.; Turnbull, C.; Butler, S.; Cook, J.A.; Casey, R.; Tischkowitz, M.; Maher, E.R.; Morganstein, D.; Eccles, D.M.; Tan, T.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 2023, 60(2):107-111)
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[Author] Durkie M
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