학술논문
'학술논문'
에서 검색결과 127건 | 목록
10~20
Academic Journal
Fassad, M.R.; Patel, M.P.; Mitchison, H.M.; Morsy, H.; Shoemark, A.; Dixon, M.; Ollosson, S.; Carr, S.; Pitno, A.; Hogg, C.; Cullup, T.; Hayward, J.; Jenkins, L.; Rogers, A.V.; Wilson, R.; Loebinger, M.R.; Jackson, C.; Goggin, P.; Thompson, J.; Walker, W.; Lucas, J.S.; Hirst, R.A.; Rutman, A.; O'Callaghan, C.; Aurora, P.; Moya, E.; Chetcuti, P.; Morris-Rosendahl, D.J.; Watson, C.M.; Lopes, S.; Shoman, W.; Fasseeh, N.; Pereira, L.; Constant, C.; Chung, E.M.K.; Kenia, P.; Rumman, N.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 May 2020, 57(5):322-330)
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia
Academic Journal
In: Clinical Dysmorphology . (Clinical Dysmorphology, 1 April 2020, 29(2):73-80)
Academic Journal
Fassad, M.R.; Patel, M.P.; Mitchison, H.M.; Morsy, H.; Shoman, W.I.; Fasseeh, N.; Radwan, N.; Fouda, E.; Jenkins, L.; Cullup, T.
In: Clinical Genetics . (Clinical Genetics, 1 March 2020, 97(3):509-515)
Academic Journal
McCreary, D.; Omoyinmi, E.; Hong, Y.; Mulhern, C.; Papadopoulou, C.; Casimir, M.; Brogan, P.; Eleftheriou, D.; Hacohen, Y.; Hemingway, C.; Nyanhete, R.; Ahlfors, H.; Cullup, T.; Lim, M.; Gilmour, K.; Mankad, K.; Wassmer, E.; Berg, S.
In: JAMA Network Open . (JAMA Network Open, 30 October 2019, 2(10))
Academic Journal
In: Clinical Dysmorphology . (Clinical Dysmorphology, 1 October 2019, 28(4):219-223)
Academic Journal
Al Yassin, A.; Cullup, T.; Bitner-Glindzicz, M.; D’arco, F.; Morín, M.; Moreno-Pelayo, M.A.; Pagarkar, W.; Harrop-Griffiths, K.; Shaida, A.; De-Souza, B.; Fernández, E.
In: Genes . (Genes, July 2019, 10(7))
Academic Journal
Gregory, A.; Jeong, S.Y.; Fox, R.; Zhen, D.; Sanford, L.; Hamada, J.; Freed, A.; Hogarth, P.; Hayflick, S.J.; Lotia, M.; Jankovic, J.; Jahic, A.; Beetz, C.; Kurian, M.A.; Cullup, T.; van der Weijden, M.C.M.; Nguyen, V.; Setthavongsack, N.; Garcia, D.; Krajbich, V.; Pham, T.; Woltjer, R.; George, B.P.; Minks, K.Q.; Paciorkowski, A.R.
In: Molecular Genetics and Genomic Medicine . (Molecular Genetics and Genomic Medicine, July 2019, 7(7))
Academic Journal
Patel, A.; Hayward, J.D.; Gabriel, C.; Jannini, T.B.; Islam, L.; Bitner-Glindzicz, M.; Hurst, J.; Jenkins, L.; Sowden, J.C.; Tailor, V.; Moosajee, M.; Khaw, P.T.; Dahlmann-Noor, A.; Nyanhete, R.; Ahlfors, H.; Cullup, T.; Abbou-Rayyah, Y.; Henderson, R.; Nischal, K.K.; Brookes, J.; Valdivia, L.E.; Zanolli, M.; Papadopoulos, M.
In: Ophthalmology . (Ophthalmology, June 2019, 126(6):888-907)
Academic Journal
Best, S.; Patel, M.P.; Fassad, M.R.; Hayward, J.; Mitchison, H.M.; Shoemark, A.; Dixon, M.; Rogers, A.V.; Ollosson, S.; Hogg, C.; Rubbo, B.; Jackson, C.L.; Goggin, P.; Lucas, J.S.; Loebinger, M.R.; Wilson, R.; Hirst, R.A.; Rutman, A.; O'Callaghan, C.; Thomas, S.; Pengelly, R.; Cullup, T.; Pissaridou, E.; Chung, E.M.K.; Onoufriadis, A.; Kenia, P.; Doughty, V.L.; Carvalho, J.S.
In: Thorax . (Thorax, 1 February 2019, 74(2):203-205)
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[AR] Cullup, T.
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