학술논문
'학술논문'
에서 검색결과 778건 | 목록
1~10
Periodical
Robinson, David O.; Howarth, Rachel J.; Williamson, Kathleen A.; van Heyningen, Veronica; Beal, Sarah J.; Crolla, John A.
American Journal of Medical Genetics. Part A; March 2008, Vol. 146 Issue: 5 p558-569, 12p
Academic Journal
Williamson, Kathleen A; Rainger, Joe; Floyd, James AB; Ansari, Morad; Meynert, Alison; Aldridge, Kishan V; Rainger, Jacqueline K; Anderson, Carl A; Moore, Anthony T; Hurles, Matthew E; Clarke, Angus; van Heyningen, Veronica; Verloes, Alain; Taylor, Martin S; Wilkie, Andrew OM; Consortium, UK10K; FitzPatrick, David R
American Journal of Human Genetics. 94(2)
Academic Journal
Smith, C.E.L.; Hany, U.; Best, S.; Poulter, J.A.; Rigby, A.; Watson, C.M.; Inglehearn, C.F.; Laugel-Haushalter, V.; Bloch-Zupan, A.; Taylor, R.L.; Black, G.C.; Wortmann, S.B.; Feichtinger, R.G.; Mayr, J.A.; Al Bahlani, S.; Nikolopoulos, G.; Mighell, A.J.; Mansour, S.; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O'Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; McKibbin, M.; Ali, M.; Toomes, C.; Ingram, S.; Manson, F.; Sergouniotis, P.; Arno, G.; Hardcastle, A.J.; Webster, A.; Pontikos, N.; Cheetham, M.; Fiorentino, A.; Downes, S.; Yu, J.; Halford, S.; Broadgate, S.; van Heyningen, V.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 20 June 2024, 61(7):689-698)
Academic Journal
Academic Journal
van Heyningen V; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.
Publisher: Royal Society Country of Publication: England NLM ID: 7503623 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-2970 (Electronic) Linking ISSN: 09628436 NLM ISO Abbreviation: Philos Trans R Soc Lond B Biol Sci Subsets: MEDLINE
Academic Journal
Hall HN; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK nikki.hall@ed.ac.uk.; Parry D; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Illumina United Kingdom, Edinburgh, UK.; Halachev M; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Williamson KA; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Donnelly K; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Campos Parada J; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Bhatia S; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Joseph J; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.; Holden S; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK.; Prescott TE; Department of Medical Genetics, Telemark Hospital, Skien, Norway.; Bitoun P; Consultations de Génétique médicale, Service de Pédiatrie, CHU Paris-Nord, Hôpital Jean Verdier, Bondy, France.; Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.; Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Lachlan K; University Hospital Southampton, NHS Foundation Trust Wessex Clinical Genetics Service, Southampton, UK.; Bernar J; Department of Genetics, Hospital Ruber Internacional, Madrid, Spain.; van Heyningen V; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.; Institute of Ophthalmology, University College London, London, UK.; FitzPatrick DR; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Meynert A; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Academic Journal
Hall, H.N.; Parry, D.; Halachev, M.; Williamson, K.A.; Donnelly, K.; Parada, J.C.; Bhatia, S.; FitzPatrick, D.R.; Meynert, A.; Joseph, J.; van Heyningen, V.; Holden, S.; Prescott, T.E.; Bitoun, P.; Kirk, E.P.; Newbury-Ecob, R.; Lachlan, K.; Bernar, J.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 30 November 2023, 61(3):250-261)
Academic Journal
Clinical Genetics. June, 2006, Vol. 69 Issue 6, p459, 12 p.
Academic Journal
Van Heyningen, V.; Bickmore, W. A.; Seawright, A.; Fletcher, J. M.; Maule, J.; Fekete, G.; Gessler, M.; Bruns, G. A. P.; Huerre-Jeanpierre, C.; Junien, C.; Williams, B. R. G.; Hastie, N. D.
Proceedings of the National Academy of Sciences of the United States of America, 1990 Jul 01. 87(14), 5383-5386.
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