학술논문
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'학술논문'
에서 검색결과 44건 | 목록
1~20
Academic Journal
Georgette Tanner; Rhiannon Barrow; Shoaib Ajaib; Muna Al-Jabri; Nazia Ahmed; Steven Pollock; Martina Finetti; Nora Rippaus; Alexander F. Bruns; Khaja Syed; James A. Poulter; Laura Matthews; Thomas Hughes; Erica Wilson; Colin Johnson; Frederick S. Varn; Anke Brüning-Richardson; Catherine Hogg; Alastair Droop; Arief Gusnanto; Matthew A. Care; Luisa Cutillo; David R. Westhead; Susan C. Short; Michael D. Jenkinson; Andrew Brodbelt; Aruna Chakrabarty; Azzam Ismail; Roel G. W. Verhaak; Lucy F. Stead
Genome Biology, Vol 25, Iss 1, Pp 1-29 (2024)
Academic Journal
Christopher M. Watson; Carolina Lascelles; Morag Raynor; Marilena Elpidorou; Ummey Hany; Laura Crinnion; Colin A. Johnson; Eamonn Sheridan; Alexander F. Markham; James A. Poulter; David T. Bonthron; Ian M. Carr
Biology, Vol 14, Iss 6, p 666 (2025)
Academic Journal
Benjamin McClinton; Laura A. Crinnion; Martin McKibbin; Rajarshi Mukherjee; James A. Poulter; Claire E. L. Smith; Manir Ali; Christopher M. Watson; Chris F. Inglehearn; Carmel Toomes
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Academic Journal
Daan M. Panneman; Rebekkah J. Hitti-Malin; Lara K. Holtes; Suzanne E. de Bruijn; Janine Reurink; Erica G. M. Boonen; Muhammad Imran Khan; Manir Ali; Sten Andréasson; Elfride De Baere; Sandro Banfi; Miriam Bauwens; Tamar Ben-Yosef; Béatrice Bocquet; Marieke De Bruyne; Berta de la Cerda; Frauke Coppieters; Pietro Farinelli; Thomas Guignard; Chris F. Inglehearn; Marianthi Karali; Ulrika Kjellström; Robert Koenekoop; Bart de Koning; Bart P. Leroy; Martin McKibbin; Isabelle Meunier; Konstantinos Nikopoulos; Koji M. Nishiguchi; James A. Poulter; Carlo Rivolta; Enrique Rodríguez de la Rúa; Patrick Saunders; Francesca Simonelli; Yasmin Tatour; Francesco Testa; Alberta A. H. J. Thiadens; Carmel Toomes; Anna M. Tracewska; Hoai Viet Tran; Hiroaki Ushida; Veronika Vaclavik; Virginie J. M. Verhoeven; Maartje van de Vorst; Christian Gilissen; Alexander Hoischen; Frans P. M. Cremers; Susanne Roosing
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Academic Journal
Jonathan A. Holbrook; Heledd H. Jarosz-Griffiths; Emily Caseley; Samuel Lara-Reyna; James A. Poulter; Caroline H. Williams-Gray; Daniel Peckham; Michael F. McDermott
Frontiers in Pharmacology, Vol 12 (2021)
Academic Journal
Claire E. L. Smith; James A. Poulter; Agne Antanaviciute; Jennifer Kirkham; Steven J. Brookes; Chris F. Inglehearn; Alan J. Mighell
Frontiers in Physiology, Vol 8 (2017)
Academic Journal
Claire E. L. Smith; Jennifer Kirkham; Peter F. Day; Francesca Soldani; Esther J. McDerra; James A. Poulter; Christopher F. Inglehearn; Alan J. Mighell; Steven J. Brookes
Frontiers in Physiology, Vol 8 (2017)
Academic Journal
Tomer Poleg; Noam Hadar; Eyal Kristal; Nicola Y. Roberts; Vadim Dolgin; Ilana Aminov; Amit Safran; Nadav Agam; Matan Jean; Ofek Freund; Eamonn G. Sheridan; James A. Poulter; Michelle L. Thompson; Yusra Algoos; Salma Al‐Qahtani; Lama AlAbdi; Sateesh Maddirevula; Verity Hartill; Henry Houlden; Reza Maroofian; Amit Nahum; Ohad S. Birk
Mov Disord
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa
Academic Journal
Leon Chang; James A. Poulter; Andrew R. Webster; Gavin Arno; Rajarshi Mukherjee; Andrew Lotery; Alison J. Hardcastle; Christopher M. Watson; Chris F. Inglehearn
European Journal of Human Genetics.
Academic Journal
Ana Martinez Rodriguez; Leon Chang; Dorota Rowczenio; Alexandra Smith; Ebun Omoyinmi; James A. Poulter; Andrew McGregor; Sebastian Francis; Roochi Trikha; Adam Al‐Hakim; Kar Lok Kong; David G. Kent; Helen Lachmann; Austin Kulasekararaj; Catherine Cargo; Sinisa Savic
British Journal of Haematology.
Academic Journal
Photochemical & Photobiological Sciences. 23:1067-1075
Academic Journal
U. Hany; Christopher M. Watson; Lu Liu; Claire E. L. Smith; Asmaa Harfoush; James A. Poulter; Georgios Nikolopoulos; Richard Balmer; Catriona J. Brown; Anesha Patel; Jenny Simmonds; Ruth Charlton; María Gabriela Acosta de Camargo; Helen Rodd; Hussain Jafri; Agne Antanaviciute; Michelle Moffat; Maisoon Al‐Jawad; Chris F. Inglehearn; Alan J. Mighell
J Med Genet
Academic Journal
Samar Yahya; Claire E.L. Smith; James A. Poulter; Martin McKibbin; Gavin Arno; Jamie Ellingford; Kati Kämpjärvi; Muhammad I. Khan; Frans P.M. Cremers; Alison J. Hardcastle; Bruce Castle; David H.W. Steel; Andrew R. Webster; Graeme C. Black; Mohammed E. El-Asrag; Manir Ali; Carmel Toomes; Chris F. Inglehearn; Stuart Ingram; Rachel Taylor; Forbes Manson; Panagiotis Sergouniotis; Nikolas Pontikos; Michael Cheetham; Alessia Fiorentino; Susan Downes; Jing Yu; Stephanie Halford; Suzanne Broadgate; Veronica van Heyningen; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Mark J. Caulfield; Georgia C. Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood
Ophthalmology, 130, 1, pp. 68-76
Yahya, S, Smith, C E L, Poulter, J A, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, M I, Cremers, F P M, Hardcastle, A J, Castle, B, Steel, D H W, Webster, A R, Black, G C, El-Asrag, M E, Ali, M, Toomes, C, Inglehearn, C F, Ingram, S, Taylor, R, Manson, F, Sergouniotis, P, Pontikos, N, Cheetham, M, Fiorentino, A, Downes, S, Yu, J, Halford, S, Broadgate, S, van Heyningen, V, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E A, Leong, I U S, Lopez, J F, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O'Donovan, P, Odhams, C A, Patch, C, Pereira, M B, Perez-Gil, D, 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 2023, ' Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene ', Ophthalmology, vol. 130, no. 1, pp. 68-76 . https://doi.org/10.1016/j.ophtha.2022.07.023
Yahya, S, Smith, C E L, Poulter, J A, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, M I, Cremers, F P M, Hardcastle, A J, Castle, B, Steel, D H W, Webster, A R, Black, G C, El-Asrag, M E, Ali, M, Toomes, C, Inglehearn, C F, Ingram, S, Taylor, R, Manson, F, Sergouniotis, P, Pontikos, N, Cheetham, M, Fiorentino, A, Downes, S, Yu, J, Halford, S, Broadgate, S, van Heyningen, V, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E A, Leong, I U S, Lopez, J F, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O'Donovan, P, Odhams, C A, Patch, C, Pereira, M B, Perez-Gil, D, 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 2023, ' Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene ', Ophthalmology, vol. 130, no. 1, pp. 68-76 . https://doi.org/10.1016/j.ophtha.2022.07.023
Academic Journal
Adam Al‐Hakim; James A. Poulter; Dina Mahmoud; Ailsa M. S. Rose; Suzanne Elcombe; Helen Lachmann; Catherine Cargo; Christopher J. A. Duncan; Mark Bishton; Venetia Bigley; Anjum Khan; Sinisa Savic
British Journal of Haematology. 199:777-781
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Marcela A. Ferrada; Sinisa Savic; Daniela Ospina Cardona; Jason C. Collins; Hugh Alessi; Fernanda Gutierrez-Rodrigues; Dinesh Babu Uthaya Kumar; Lorena Wilson; Wendy Goodspeed; James S. Topilow; Julie J. Paik; James A. Poulter; Tanaz A. Kermani; Matthew J. Koster; Kenneth J. Warrington; Catherine Cargo; Rachel S. Tattersall; Christopher J. A. Duncan; Anna Cantor; Patrycja Hoffmann; Elspeth M. Payne; Hanna Bonnekoh; Karoline Krause; Edward W. Cowen; Katherine R. Calvo; Bhavisha A. Patel; Amanda K. Ombrello; Daniel L. Kastner; Neal S. Young; Achim Werner; Peter C. Grayson; David B. Beck
Blood. 140:1496-1506
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Lydia Green; Noémie Hamilton; Marilena Elpidorou; Reza Maroofian; Andrew G.L. Douglas; Katrin Õunap; Ailsa M.S. Rose; Erica L. Harris; Stone Elworthy; Stephen A. Renshaw; Elizabeth C. Low; David H. Dockrell; Kristian Tveten; Geoffrey Wells; Sarah A. Harris; Almundher Al-Maawali; Khalid Al-Thihli; Sana Al-Zuhaibi; Amna Al Futaisi; Daniel Calame; Ivan Chinn; Kristen S. Fisher; Mario Sa; Daniel Warren; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Hamid Galehdari; Gholamreza Shariati; Tahere Seifi; Maha S. Zaki; Erum Afzal; Mark A. Tarnopolsky; Lauren Brady; Stephan L. Zuchner; Stephanie Efthymiou; Annarita Scardamaglia; Henry Houlden; Emma Wakeling; Prab Prabhakar; Carla Roca-Bayerri; Gillian I. Rice; Clément Prouteau; Céline Bris; Marine Tessarech; Inger Sandvig; Eamonn G. Sheridan; Colin A. Johnson; John H. Livingston; Yanick J. Crow; James A. Poulter
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Marilena Elpidorou; James A. Poulter; Katarzyna Szymanska; Wia Baron; Katrin Junger; Karsten Boldt; Marius Ueffing; Lydia Green; John H. Livingston; Eammon G. Sheridan; Colin A. Johnson
Eur J Hum Genet
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[AR] James A. Poulter
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