학술논문
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'학술논문'
에서 검색결과 212건 | 목록
1~20
Academic Journal
Harris, Erica L. ; Roy, Vincent ; Montagne, Martin ; Rose, Ailsa M.S. ; Livesey, Helen ; Reijnders, Margot R.F. ; Hobson, Emma ; Sansbury, Francis H. ; Willemsen, Marjolein H. ; Pfundt, Rolph ; Warren, Daniel ; Long, Vernon ; Carr, Ian M. ; Brunner, Han G. ; Sheridan, Eamonn G. ; Firth, Helen V. ; Lavigne, Pierre ; Poulter, James A.
In The American Journal of Human Genetics 4 January 2024 111(1):119-132
Academic Journal
Reijnders, Margot R.F. ; Seibt, Annette ; Brugger, Melanie ; Lamers, Ideke J.C. ; Ott, Torsten ; Klaas, Oliver ; Horváth, Judit ; Rose, Ailsa M.S. ; Craghill, Isabel M. ; Brunet, Theresa ; Graf, Elisabeth ; Mayerhanser, Katharina ; Hellebrekers, Debby ; Pauck, David ; Neuen-Jacob, Eva ; Rodenburg, Richard J.T. ; Wieczorek, Dagmar ; Klee, Dirk ; Mayatepek, Ertan ; Driessen, Gertjan ; Bindermann, Robert ; Averdunk, Luisa ; Lohmeier, Klaus ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Roepman, Ronald ; Poulter, James A. ; Distelmaier, Felix
In Genetics in Medicine July 2023 25(7)
Academic Journal
Ingram, Stuart; Taylor, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Pontikos, Nikolas; Cheetham, Michael; Fiorentino, Alessia; Downes, Susan; Yu, Jing; Halford, Stephanie; Broadgate, Suzanne; van Heyningen, Veronica; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Yahya, Samar ; Smith, Claire E.L. ; Poulter, James A. ; McKibbin, Martin ; Arno, Gavin ; Ellingford, Jamie ; Kämpjärvi, Kati ; Khan, Muhammad I. ; Cremers, Frans P.M. ; Hardcastle, Alison J. ; Castle, Bruce ; Steel, David H.W. ; Webster, Andrew R. ; Black, Graeme C. ; El-Asrag, Mohammed E. ; Ali, Manir ; Toomes, Carmel ; Inglehearn, Chris F.
In Ophthalmology January 2023 130(1):68-76
Academic Journal
Ferrada, Marcela A. ; Savic, Sinisa ; Cardona, Daniela Ospina ; Collins, Jason C. ; Alessi, Hugh ; Gutierrez-Rodrigues, Fernanda ; Kumar, Dinesh Babu Uthaya ; Wilson, Lorena ; Goodspeed, Wendy ; Topilow, James S. ; Paik, Julie J. ; Poulter, James A. ; Kermani, Tanaz A. ; Koster, Matthew J. ; Warrington, Kenneth J. ; Cargo, Catherine ; Tattersall, Rachel S. ; Duncan, Christopher J.A. ; Cantor, Anna ; Hoffmann, Patrycja ; Payne, Elspeth M. ; Bonnekoh, Hanna ; Krause, Karoline ; Cowen, Edward W. ; Calvo, Katherine R. ; Patel, Bhavisha A. ; Ombrello, Amanda K. ; Kastner, Daniel L. ; Young, Neal S. ; Werner, Achim ; Grayson, Peter C. ; Beck, David B.
In Blood 29 September 2022 140(13):1496-1506
Academic Journal
In Seminars in Hematology October 2021 58(4):212-217
Academic Journal
Vig, Anjali ; Poulter, James A. ; Ottaviani, Daniele ; Tavares, Erika ; Toropova, Katerina ; Tracewska, Anna Maria ; Mollica, Antonio ; Kang, Jasmine ; Kehelwathugoda, Oshini ; Paton, Tara ; Maynes, Jason T. ; Wheway, Gabrielle ; Arno, Gavin ; Ambrose, J.C. ; Arumugam, P. ; Baple, E.L. ; Bleda, M. ; Boardman-Pretty, F. ; Boissiere, J.M. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Craig, C.E.H. ; Daugherty, L.C. ; de Burca, A. ; Devereau, A. ; Elgar, G. ; Foulger, R.E. ; Fowler, T. ; Furió-Tarí, P. ; Hackett, J.M. ; Halai, D. ; Hamblin, A. ; Henderson, S. ; Holman, J.E. ; Hubbard, T.J.P. ; Ibáñez, K. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Lahnstein, L. ; Lawson, K. ; Leigh, S.E.A. ; Leong, I.U.S. ; Lopez, F.J. ; Maleady-Crowe, F. ; Mason, J. ; McDonagh, E.M. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Polychronopoulos, D. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Riesgo-Ferreiro, P. ; Rogers, T. ; Ryten, M. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smedley, D. ; Smith, K.R. ; Sosinsky, A. ; Spooner, W. ; Stevens, H.E. ; Stuckey, A. ; Sultana, R. ; Thomas, E.R.A. ; Thompson, S.R. ; Tregidgo, C. ; Tucci, A. ; Walsh, E. ; Watters, S.A. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Zarowiecki, M. ; Khan, Kamron N. ; McKibbin, Martin ; Toomes, Carmel ; Ali, Manir ; Di Scipio, Matteo ; Li, Shuning ; Ellingford, Jamie ; Black, Graeme ; Webster, Andrew ; Rydzanicz, Małgorzata ; Stawiński, Piotr ; Płoski, Rafał ; Vincent, Ajoy ; Cheetham, Michael E. ; Inglehearn, Chris F. ; Roberts, Anthony ; Heon, Elise
In Genetics in Medicine December 2020 22(12):2041-2051
Academic Journal
Stremenova Spegarova, Jarmila ; Lawless, Dylan ; Mohamad, Siti Mardhiana Binti ; Engelhardt, Karin R. ; Doody, Gina ; Shrimpton, Jennifer ; Rensing-Ehl, Anne ; Ehl, Stephan ; Rieux-Laucat, Frederic ; Cargo, Catherine ; Griffin, Helen ; Mikulasova, Aneta ; Acres, Meghan ; Morgan, Neil V. ; Poulter, James A. ; Sheridan, Eamonn G. ; Chetcuti, Philip ; O'Riordan, Sean ; Anwar, Rashida ; Carter, Clive R. ; Przyborski, Stefan ; Windebank, Kevin ; Cant, Andrew J. ; Lako, Majlinda ; Bacon, Chris M. ; Savic, Sinisa ; Hambleton, Sophie
In Blood 27 August 2020 136(9):1055-1066
Academic Journal
Martinez Rodriguez, Ana; Chang, Leon; Rowczenio, Dorota; Smith, Alexandra; Omoyinmi, Ebun; Poulter, James A.; McGregor, Andrew; Francis, Sebastian; Trikha, Roochi; Al‐Hakim, Adam; Lok Kong, Kar; Kent, David G.; Lachmann, Helen; Kulasekararaj, Austin; Cargo, Catherine; Savic, Sinisa
Academic Journal
Black, Graeme; Hall, Georgina; Ingram, Stuart; Taylor, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Webster, Andrew; Hardcastle, Alison; Michaelides, Michel; Plagnol, Vincent; Pontikos, Nikolas; Cheetham, Michael; Arno, Gavin; Fiorentino, Alessia; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; McKibbin, Martin; Smith, Claire; Khan, Kamron; Downes, Susan; Yu, Jing; Halford, Stephanie; Broadgate, Suzanne; van Heyningen, Veronica; Taylor, Rachel L. ; Poulter, James A. ; Downes, Susan M. ; Khan, Kamron N. ; Inglehearn, Chris F. ; Webster, Andrew R. ; Hardcastle, Alison J. ; Bishop, Paul N. ; Clark, Simon J. ; Black, Graeme C.
In Ophthalmology October 2019 126(10):1410-1421
Academic Journal
Bonnefoy, Serge ; Watson, Christopher M. ; Kernohan, Kristin D. ; Lemos, Moara ; Hutchinson, Sebastian ; Poulter, James A. ; Crinnion, Laura A. ; Berry, Ian ; Simmonds, Jennifer ; Vasudevan, Pradeep ; O’Callaghan, Chris ; Hirst, Robert A. ; Rutman, Andrew ; Huang, Lijia ; Hartley, Taila ; Grynspan, David ; Moya, Eduardo ; Li, Chunmei ; Carr, Ian M. ; Bonthron, David T. ; Leroux, Michel ; Boycott, Kym M. ; Bastin, Philippe ; Sheridan, Eamonn G.
In The American Journal of Human Genetics 1 November 2018 103(5):727-739
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa
Academic Journal
Chang, Leon; Poulter, James A.; Webster, Andrew R.; Arno, Gavin; Mukherjee, Rajarshi; Lotery, Andrew; Hardcastle, Alison J.; Watson, Christopher M.; Inglehearn, Chris F.
European Journal of Human Genetics. 34(2):227-235
Academic Journal
Poleg, Tomer; Hadar, Noam; Kristal, Eyal; Roberts, Nicola Y.; Dolgin, Vadim; Aminov, Ilana; Safran, Amit; Agam, Nadav; Jean, Matan; Freund, Ofek; Sheridan, Eamonn G.; Poulter, James A.; Thompson, Michelle L.; Algoos, Yusra; Al‐Qahtani, Salma; AlAbdi, Lama; Maddirevula, Sateesh; Hartill, Verity; Houlden, Henry; Maroofian, Reza
Academic Journal
Hany, Ummey; Watson, Christopher M.; Liu, Lu; Nikolopoulos, Georgios; Smith, Claire E. L.; Poulter, James A.; Antanaviciute, Agne; Rigby, Alice; Balmer, Richard; Brown, Catriona J.; Patel, Anesha; de Camargo, María Gabriela Acosta; Rodd, Helen D.; Moffat, Michelle; Murillo, Gina; Mudawi, Amal; Jafri, Hussain; Mighell, Alan J.; Inglehearn, Chris F.; Aziz, Aziz ur Rehman
Human Mutation; 7/22/2025, Vol. 2025, p1-16, 16p
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Academic Journal
Ratbi, Ilham ; Falkenberg, Kim D. ; Sommen, Manou ; Al-Sheqaih, Nada ; Guaoua, Soukaina ; Vandeweyer, Geert ; Urquhart, Jill E. ; Chandler, Kate E. ; Williams, Simon G. ; Roberts, Neil A. ; El Alloussi, Mustapha ; Black, Graeme C. ; Ferdinandusse, Sacha ; Ramdi, Hind ; Heimler, Audrey ; Fryer, Alan ; Lynch, Sally-Ann ; Cooper, Nicola ; Ong, Kai Ren ; Smith, Claire E.L. ; Inglehearn, Christopher F. ; Mighell, Alan J. ; Elcock, Claire ; Poulter, James A. ; Tischkowitz, Marc ; Davies, Sally J. ; Sefiani, Abdelaziz ; Mironov, Aleksandr A. ; Newman, William G. ; Waterham, Hans R. ; Van Camp, Guy
In The American Journal of Human Genetics 1 October 2015 97(4):535-545
Academic Journal
Watson, Christopher M.; Lascelles, Carolina; Raynor, Morag; Elpidorou, Marilena; Hany, Ummey; Crinnion, Laura; Johnson, Colin A.; Sheridan, Eamonn; Markham, Alexander F.; Poulter, James A.; Bonthron, David T.; Carr, Ian M.
Academic Journal
Topping, Joanne; Chang, Leon; Nadat, Fatima; Poulter, James A.; Ibbotson, Alice; Lara‐Reyna, Samuel; Watson, Christopher M.; Carter, Clive; Pournara, Linda P.; Zernicke, Jan; Ross, Rebecca L.; Cargo, Catherine; Lyons, Paul A.; Smith, Kenneth G. C.; Del Galdo, Francesco; Rech, Jürgen; Fautrel, Bruno; Feist, Eugen; McDermott, Michael F.; Savic, Sinisa
Academic Journal
Sun, Dong; Henderson, Robert H.; Clement, Emma; Michaelides, Michel; Kalitzeos, Angelos; Wright, Genevieve A.; Mcloone, Eibhlin; Inglehearn, Chris; Poulter, James A.; Toomes, Carmel
Academic Journal
Aleem, Tooba; Rashid, Maliha; Ahmad, Naeem; Asif, Muhammad Farrukh; Tariq, Muhammad; Malik, Naveed Altaf; Poulter, James A.
European Journal of Human Genetics. :1-7
Academic Journal
Poulter, James A. ; Collins, Jason C. ; Cargo, Catherine ; De Tute, Ruth M. ; Evans, Paul ; Ospina Cardona, Daniela ; Bowen, David T. ; Cunnington, Joanna R. ; Baguley, Elaine ; Quinn, Mark ; Green, Michael ; McGonagle, Dennis ; Beck, David B. ; Werner, Achim ; Savic, Sinisa
In Blood 1 July 2021 137(26):3676-3681
Academic Journal
Al-Hakim, Adam; Trikha, Roochi; Htut, Ei Ei Phyu; Chowdhury, Onima; Maclennan, Calman A.; Chee, Ashlyn; Kaul, Arvind; Poulter, James A.; Cargo, Catherine; Wason, James M. S.; Ahmed, Sammiya; Basu, Tanya N.; Gogoi, Sukanya; Galloway, James; Jolles, Stephen; Mistry, Anoop; Payne, Elspeth M.; Tattersall, Rachel S.; Youngstein, Taryn; Lachmann, Helen J.; Kulasekararaj, Austin; Savic, Sinisa
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[AR] Poulter, James A.
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