학술논문
'학술논문'
에서 검색결과 21건 | 목록
1~10
Academic Journal
Kuht, H.J.; Mclean, R.J.; Aamir, A.; Gottlob, I.; Thomas, M.G.; Maconachie, G.D.E.; Avery, R.; Golnik, K.C.; Froment, C.; Wang, A.-G.
In: Journal of Neuro-Ophthalmology . (Journal of Neuro-Ophthalmology, 1 December 2023, 43(4):E313-E315)
Academic Journal
Kuht, H.J.; Maconachie, G.D.E.; McLean, R.J.; Hisaund, M.; Tu, Z.; Sheth, V.; Purohit, R.; Dawar, B.; Girach, A.; Aamir, A.; Proudlock, F.A.; Gottlob, I.; Thomas, M.G.; Han, J.; Kessel, L.; van Genderen, M.M.; Hertle, R.W.; Gronskov, K.; Bai, D.; Wei, A.; Li, W.; Jiao, Y.; Smirnov, V.; Choi, J.-H.; Tobin, M.D.; Strul, S.; May, L.; Chen, F.K.; Heath Jeffery, R.C.; Sano, R.; Jin, J.; Brooks, B.P.; Kohl, S.; Arveiler, B.; Montoliu, L.; Engle, E.C.; Nishad, G.; Pani, P.; Varma, G.
In: Ophthalmology . (Ophthalmology, June 2022, 129(6):708-718)
Academic Journal
Aamir, A.; Kuht, H.J.; McLean, R.J.; Maconachie, G.D.E.; Sheth, V.; Dawar, B.; Purohit, R.; Hisaund, M.; Proudlock, F.A.; Gottlob, I.; Thomas, M.G.; Sylvius, N.; Zubcov-Iwantscheff, A.
In: Scientific Reports . (Scientific Reports, December 2021, 11(1))
Academic Journal
In: European Journal of Human Genetics . (European Journal of Human Genetics, October 2021, 29(10):1584-1588)
Academic Journal
Thomas, M.G.; Maconachie, G.D.E.; Kuht, H.J.; Sheth, V.; Hisaund, M.; McLean, R.J.; Proudlock, F.A.; Tu, Z.; Gottlob, I.; Chan, W.-M.; Barry, B.; Engle, E.C.; Al-Diri, B.
In: International Journal of Molecular Sciences . (International Journal of Molecular Sciences, 1 March 2021, 22(5):1-13)
Academic Journal
Kuht, H.J.; Maconachie, G.D.E.; McLean, R.; Sheth, V.; Hisaund, M.; Dawar, B.; Proudlock, F.A.; Gottlob, I.; Thomas, M.G.; Han, J.; Park, S.E.; Lee, S.-T.; Sylvius, N.; Mahmood, U.; Lim, H.T.
In: Human Molecular Genetics . (Human Molecular Genetics, 15 September 2020, 29(18):2989-3002)
Academic Journal
Whitman, M.C.; Bell, J.L.; MacKinnon, S.; Hunter, D.G.; Engle, E.C.; Di Gioia, S.A.; Chan, W.-M.; Gelber, A.; Pratt, B.M.; Collins, T.E.; Shaaban, S.; Knowles, J.A.; Armoskus, C.; Pato, M.; Pato, C.; Staffieri, S.; Maconachie, G.D.E.; Gottlob, I.; Elder, J.E.; Traboulsi, E.I.; Mackey, D.A.
In: Investigative Ophthalmology and Visual Science . (Investigative Ophthalmology and Visual Science, August 2020, 61(10))
Academic Journal
Thomas, M.G.; Maconachie, G.D.E.; Hisaund, M.; Sheth, V.; Kuht, H.J.; Gottlob, I.; Constantinescu, C.S.; Chan, W.-M.; Barry, B.; Engle, E.C.; Dineen, R.A.; Harieaswar, S.
In: British Journal of Ophthalmology . (British Journal of Ophthalmology, 1 April 2020, 104(4):547-550)
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Academic Journal
Mayer, A.K.; Kohl, S.; Wissinger, B.; Mahajnah, M.; Cohen, Y.; Thomas, M.G.; MacOnachie, G.D.E.; Gottlob, I.; Habib, A.; Schulze, M.; Bauer, P.; Almoallem, B.; De Baere, E.; Lorenz, B.; Traboulsi, E.I.; Azem, A.; Sharkia, R.
In: Brain . (Brain, 1 June 2019, 142(6):1528-1534)
Academic Journal
Shaaban, S.; Andrews, C.; Chan, W.-M.; Engle, E.C.; Whitman, M.C.; Mackinnon, S.; Hunter, D.G.; Staffieri, S.E.; Hewitt, A.W.; Mackey, D.A.; Elder, J.E.; Maconachie, G.D.E.; Gottlob, I.; Morton, S.U.; Yazar, S.; Macgregor, S.; Traboulsi, E.I.; Baglieri, A.; Barry, B.; Bekele, S.; Breau, S.E.; Chan, K.; Corkin, F.; Dagi, L.R.; Elliott, A.; Esligar, J.; Fang, C.; Fulton, A.B.; Heidary, G.; Johnston, S.; Kazlas, M.; Ledoux, D.M.; Levy, R.L.; Mantagos, I.S.; Miller, K.B.; Mills, M.; Oystreck, D.; Petersen, C.S.; Petersen, R.A.; Pierce, C.E.; Raghuram, A.; Robb, R.; Sandoval, J.C.; Sethee, S.; Shah, A.S.; Smith, L.E.H.; Toffoloni, M.; Vanderveen, D.K.; Whitecross, S.; Wong, R.K.; Wu, C.; Barbour, J.; Clarke, L.; Dondey, J.C.; Flaherty, M.; Grigg, J.; Hanman, K.; Haybittel, M.; Jamieson, R.V.; Kearns, L.S.; Kowal, L.; Lam, G.C.; Joon, T.L.; McKenzie, J.; Rose, L.; Ruddle, J.B.; Scotter, L.; Sinclair, N.E.; Wilkinson, C.; Wilkinson, R.; Sheth, V.; Thomas, M.G.
In: Investigative Ophthalmology and Visual Science . (Investigative Ophthalmology and Visual Science, August 2018, 59(10):4054-4064)
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[AR] Maconachie, G.D.E.
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