학술논문
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'학술논문'
에서 검색결과 588건 | 목록
1~20
Academic Journal
Vandersteen, Anthony M; Weerakkody, Ruwan A; Parry, David A; Kanonidou, Christina; Toddie-Moore, Daniel J; Vandrovcova, Jana; Darlay, Rebecca; Santoyo-Lopez, Javier; Meynert, Alison; NIHR BioResource; Kazkaz, Hanadi; Grahame, Rodney; Cummings, Carole; Bartlett, Marion; Ghali, Neeti; Brady, Angela F; Pope, F Michael; van Dijk, Fleur S; Cordell, Heather J; Aitman, Timothy J
2023, ' Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2023-109329
Academic Journal
The Scottish Genomes Partnership; Dulias, Katharina; Foody, M. George B.; Justeau, Pierre; Silva, Marina; Martiniano, Rui; Oteo-García, Gonzalo; Fichera, Alessandro; Rodrigues, Simão; Gandini, Francesca; Meynert, Alison; Donnelly, Kevin; Aitman, Timothy J.; Chamberlain, Andrew; Lelong, Olivia; Kozikowski, George; Powlesland, Dominic; Waddington, Clive; Mattiangeli, Valeria; Bradley, Daniel G.; Bryk, Jaroslaw; Soares, Pedro; Wilson, James F.; Wilson, Graeme; Moore, Hazel; Pala, Maria; Edwards, Ceiridwen J.; Richards, Martin B.
Proceedings of the National Academy of Sciences of the United States of America, 2022 Feb . 119(8), 1-10.
Academic Journal
Pottinger, Tess D.; Motelow, Joshua E.; Povysil, Gundula; Moreno, Cristiane A. Martins; Ren, Zhong; Phatnani, Hemali; Aitman, Timothy J.; Santoyo-Lopez, Javier; Mitsumoto, Hiroshi; Goldstein, David B.; Harms, Matthew B.
BMC Genomics. 25(1)
Academic Journal
Kapferer-Seebacher, Ines; Pepin, Melanie; Werner, Roland; Aitman, Timothy J; Nordgren, Ann; Stoiber, Heribert; Thielens, Nicole; Gaboriaud, Christine; Amberger, Albert; Schossig, Anna; Gruber, Robert; Giunta, Cecilia; Bamshad, Michael; Björck, Erik; Chen, Christina; Chitayat, David; Dorschner, Michael; Schmitt-Egenolf, Marcus; Hale, Christopher J; Hanna, David; Hennies, Hans Christian; Heiss-Kisielewsky, Irene; Lindstrand, Anna; Lundberg, Pernilla; Mitchell, Anna L; Nickerson, Deborah A; Reinstein, Eyal; Rohrbach, Marianne; Romani, Nikolaus; Schmuth, Matthias; Silver, Rachel; Taylan, Fulya; Vandersteen, Anthony; Vandrovcova, Jana; Weerakkody, Ruwan; Yang, Margaret; Pope, F Michael; Byers, Peter H; Zschocke, Johannes
American Journal of Human Genetics. 99(5):1005-1014
Academic Journal
NOBLE, DAVID; Salati, Victoria; Srinivasan, Devraj P.; Mackenzie, Joanna; Adamowicz, Martyna; Robert, Christelle; Carey, Lara M.; Cuschieri, Kate; Conn, Brendan; Hay, Ashley; Aitman, Timothy J.; Nixon, Iain J.
Radiotherapy and Oncology. 194:S1406-S1411
Academic Journal
Dodd, Daniel O.; Mechaussier, Sabrina; Yeyati, Patricia L.; McPhie, Fraser; Anderson, Jacob R.; Khoo, Chen Jing; Shoemark, Amelia; Gupta, Deepesh K.; Attard, Thomas; Zariwala, Maimoona A.; Legendre, Marie; Bracht, Diana; Wallmeier, Julia; Gui, Miao; Fassad, Mahmoud R.; Parry, David A.; Tennant, Peter A.; Meynert, Alison; Wheway, Gabrielle; Fares-Taie, Lucas; Black, Holly A.; Mitri-Frangieh, Rana; Faucon, Catherine; Kaplan, Josseline; Patel, Mitali; McKie, Lisa; Megaw, Roly; Gatsogiannis, Christos; Mohamed, Mai A.; Aitken, Stuart; Gautier, Philippe; Reinholt, Finn R.; Hirst, Robert A.; O’Callaghan, Chris; Heimdal, Ketil; Bottier, Mathieu; Escudier, Estelle; Crowley, Suzanne; Descartes, Maria; Jabs, Ethylin W.; Kenia, Priti; Amiel, Jeanne; Bacci, Giacomo Maria; Calogero, Claudia; Palazzo, Viviana; Tiberi, Lucia; Blümlein, Ulrike; Rogers, Andrew; Wambach, Jennifer A.; Wegner, Daniel J.; Fulton, Anne B.; Kenna, Margaret; Rosenfeld, Margaret; Holm, Ingrid A.; Quigley, Alan; Hall, Emma A.; Murphy, Laura C.; Cassidy, Diane M.; von Kriegsheim, Alex; Papon, Jean-François; Pasquier, Laurent; Murris, Marlène S.; Chalmers, James D; Hogg, Claire; Macleod, Kenneth A.; Urquhart, Don S.; Unger, Stefan; Aitman, Timothy J.; Amselem, Serge; Leigh, Margaret W.; Knowles, Michael R.; Omran, Heymut; Mitchison, Hannah M.; Brown, Alan; Marsh, Joseph A.; Welburn, Julie P. I.; Ti, Shih-Chieh; Horani, Amjad; Rozet, Jean-Michel; Perrault, Isabelle; Mill, Pleasantine
Science
Academic Journal
Dodd, Daniel O; Mechaussier, Sabrina; Yeyati, Patricia L; McPhie, Fraser; Anderson, Jacob R; Khoo, Chen Jing; Shoemark, Amelia; Gupta, Deepesh K; Attard, Thomas; Zariwala, Maimoona A; Legendre, Marie; Bracht, Diana; Wallmeier, Julia; Gui, Miao; Fassad, Mahmoud R; Parry, David A; Tennant, Peter A; Meynert, Alison; Wheway, Gabrielle; Fares-Taie, Lucas; Black, Holly A; Mitri-Frangieh, Rana; Faucon, Catherine; Kaplan, Josseline; Patel, Mitali; McKie, Lisa; Megaw, Roly; Gatsogiannis, Christos; Mohamed, Mai A; Aitken, Stuart; Gautier, Philippe; Reinholt, Finn R; Hirst, Robert A; O'Callaghan, Chris; Heimdal, Ketil; Bottier, Mathieu; Escudier, Estelle; Crowley, Suzanne; Descartes, Maria; Jabs, Ethylin W; Kenia, Priti; Amiel, Jeanne; Bacci, Giacomo Maria; Calogero, Claudia; Palazzo, Viviana; Tiberi, Lucia; Blümlein, Ulrike; Rogers, Andrew; Wambach, Jennifer A; Wegner, Daniel J; Fulton, Anne B; Kenna, Margaret; Rosenfeld, Margaret; Holm, Ingrid A; Quigley, Alan; Hall, Emma A; Murphy, Laura C; Cassidy, Diane M; von Kriegsheim, Alex; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon, Jean-François; Pasquier, Laurent; Murris, Marlène S; Chalmers, James D; Hogg, Claire; Macleod, Kenneth A; Urquhart, Don S; Unger, Stefan; Aitman, Timothy J; Amselem, Serge; Leigh, Margaret W; Knowles, Michael R; Omran, Heymut; Mitchison, Hannah M; Brown, Alan; Marsh, Joseph A; Welburn, Julie PI; Ti, Shih-Chieh; Horani, Amjad; Rozet, Jean-Michel; Perrault, Isabelle; Mill, Pleasantine
Academic Journal
Li, Lucy Q.; Adamowicz, Martyna; Wescott, Robert A.; Warlow, Sophie J.; Thomson, John P.; Robert, Christelle; Carey, Lara M.; Thain, Helen; Cuschieri, Kate; Conn, Brendan; Hay, Ashley; Aitman, Timothy J.; Nixon, Iain J.
European Journal of Surgical Oncology. 49(1):55-59
Academic Journal
Salati, Victoria; Coote, Abbie; Adamowicz, Martyna; Robert, Christelle; Carey, Lara M.; Cuschieri, Kate; Conn, Brendan; Noble, David; Hay, Ashley; Aitman, Timothy J.; Nixon, Iain J.
European Journal of Surgical Oncology. 50(2)
Academic Journal
Hocking, Lynne J.; Andrews, Claire; Armstrong, Christine; Ansari, Morad; Baty, David; Berg, Jonathan; Bradley, Therese; Clark, Caroline; Diamond, Austin; Doherty, Jill; Lampe, Anne; McGowan, Ruth; Moore, David J.; O’Sullivan, Dawn; Purvis, Andrew; Santoyo-Lopez, Javier; Westwood, Paul; Abbott, Michael; Williams, Nicola; Aitman, Timothy J.; Miedzybrodzka, Zosia
European Journal of Human Genetics. 31(2):231-238
Academic Journal
Leighton, Danielle J.; Ansari, Morad; Newton, Judith; Parry, David; Cleary, Elaine; Colville, Shuna; Stephenson, Laura; Larraz, Juan; Johnson, Micheala; Beswick, Emily; Wong, Michael; Gregory, Jenna; Carod Artal, Javier; Davenport, Richard; Duncan, Callum; Morrison, Ian; Smith, Colin; Swingler, Robert; Deary, Ian J.; Porteous, Mary; Aitman, Timothy J.; Chandran, Siddharthan; Gorrie, George H.; Pal, Suvankar
Journal of Neurology. :1-11
Academic Journal
Warlow, Sophie J. ; Adamowicz, Martyna ; Thomson, John P. ; Wescott, Robert A. ; Robert, Christelle ; Carey, Lara M. ; Thain, Helen ; Cuschieri, Kate ; Li, Lucy Q. ; Conn, Brendan ; Hay, Ashley ; Nixon, Iain J. ; Aitman, Timothy J.
In European Journal of Surgical Oncology June 2022 48(6):1224-1234
Academic Journal
Turro, Ernest; Astle, William J; Megy, Karyn; Gräf, Stefan; Greene, Daniel; Shamardina, Olga; Allen, Hana Lango; Sanchis-Juan, Alba; Frontini, Mattia; Thys, Chantal; Stephens, Jonathan; Mapeta, Rutendo; Burren, Oliver S; Downes, Kate; Haimel, Matthias; Tuna, Salih; Deevi, Sri V V; Aitman, Timothy J; Bennett, David L; Calleja, Paul; Carss, Keren; Caulfield, Mark J; Chinnery, Patrick F; Dixon, Peter H; Gale, Daniel P; James, Roger; Koziell, Ania; Laffan, Michael A; Levine, Adam P; Maher, Eamonn R; Markus, Hugh S; Morales, Joannella; Morrell, Nicholas W; Mumford, Andrew D; Ormondroyd, Elizabeth; Rankin, Stuart; Rendon, Augusto; Richardson, Sylvia; Roberts, Irene; Roy, Noemi B A; Saleem, Moin A; Smith, Kenneth G C; Stark, Hannah; Tan, Rhea Y Y; Themistocleous, Andreas C; Thrasher, Adrian J; Watkins, Hugh; Webster, Andrew R; Wilkins, Martin R; Williamson, Catherine; Whitworth, James; Humphray, Sean; Bentley, David R; Kingston, Nathalie; Walker, Neil; Bradley, John R; Ashford, Sofie; Penkett, Christopher J; Freson, Kathleen; Stirrups, Kathleen E; Raymond, F Lucy; Ouwehand, Willem H; Marschall, Hanns-Ulrich, 1954
Nature. 583(7814):96-102
Natural Polymorphisms in Tap2 Influence Negative Selection and CD4∶CD8 Lineage Commitment in the Rat
Academic Journal
Tuncel, Jonatan; Haag, Sabrina; Yau, Anthony C. Y.; Norin, Ulrika; Baud, Amelie; Lönnblom, Erik; Maratou, Klio; Ytterberg, A. Jimmy; Ekman, Diana; Thordardottir, Soley; Johannesson, Martina; Gillett, Alan; Stridh, Pernilla; Jagodic, Maja; Olsson, Tomas; Fernández-Teruel, Alberto; Zubarev, Roman A.; Mott, Richard; Aitman, Timothy J.; Flint, Jonathan; Holmdahl, Rikard
PLOS Genetics. 10(2)
Academic Journal
Evans, D.Gareth R.; van Veen, Elke M.; Byers, Helen J.; Wallace, Andrew J.; Ellingford, Jamie M.; Beaman, Glenda; Santoyo-Lopez, Javier; Aitman, Timothy J.; Eccles, Diana; Lalloo, Fiona I.; Smith, Miriam J.; Newman, William G.
Am J Hum Genet
Evans, D G R, van Veen, E M, Byers, H J, Wallace, A J, Ellingford, J M, Beaman, G, Santoyo-Lopez, J,Aitman , T J, Eccles, D M, Lalloo, F I, Smith, M J & Newman, W G 2018, ' A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer ', American Journal of Human Genetics, vol. 103, no. 2, pp. 213-220 . https://doi.org/10.1016/j.ajhg.2018.07.002
Evans, D G, Van Veen, E, Byers, H, Wallace, A J, Ellingford, J, Lalloo, F, Smith, M J & Newman, W 2018, 'A dominantly inherited 5’UTR variant causing methylation associated silencing of BRCA1 as a cause of breast and ovarian cancer', American Journal of Human Genetics, vol. 103, no. 2, pp. 213-220. https://doi.org/10.1016/j.ajhg.2018.07.002
Evans, D G R, van Veen, E M, Byers, H J, Wallace, A J, Ellingford, J M, Beaman, G, Santoyo-Lopez, J,
Evans, D G, Van Veen, E, Byers, H, Wallace, A J, Ellingford, J, Lalloo, F, Smith, M J & Newman, W 2018, 'A dominantly inherited 5’UTR variant causing methylation associated silencing of BRCA1 as a cause of breast and ovarian cancer', American Journal of Human Genetics, vol. 103, no. 2, pp. 213-220. https://doi.org/10.1016/j.ajhg.2018.07.002
Academic Journal
Alfazema, Neza; Barrier, Marjorie; Marion de Procé, Sophie; Menzies, Robert; Nicholas Carter, Roderick; Stewart, Kevin; Diaz, Ana Garcia; Moyon, Ben; Webster, Zoe; Bellamy, Christopher O.C.; Arends, Mark J.; Stimson, Roland H.; Morton, Nicholas M.; Aitman, Timothy J.; Coan, Philip
Hypertension
Alfazema, N, Barrier, M, Marion de Procé, S, Menzies, R, Nicholas Carter, R, Stewart, K, Diaz, A G, Moyon, B, Webster, Z, Bellamy, C O C, Arends, M J, Stimson, R H, Morton, N M,Aitman , T J & Coan, P 2019, ' Camk2n1 is a negative regulator of blood pressure, left ventricular mass, insulin sensitivity and promotes adiposity ', Hypertension, vol. 74, no. 3, pp. 687-696 . https://doi.org/10.1161/HYPERTENSIONAHA.118.12409
Alfazema, N, Barrier, M, Marion de Procé, S, Menzies, R, Nicholas Carter, R, Stewart, K, Diaz, A G, Moyon, B, Webster, Z, Bellamy, C O C, Arends, M J, Stimson, R H, Morton, N M,
Academic Journal
Danny Laurent; Fiona Semple; Philip J. Starkey Lewis; Elaine Rose; Holly A. Black; Jennifer Coe; Stuart J. Forbes; Mark J. Arends; James W. Dear; Timothy J. Aitman
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-12 (2020)
Academic Journal
Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner-Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cookson, Victoria; Cooper, Nichola; Corris, Paul; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V.V.; Deshpande, Charu; Devlin, Lisa; Dewhurst, Eleanor; Dixon, Peter; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Graf, Stefan; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Grozeva, Detelina; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W.M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huis in’t Veld, Anna; Huissoon, Aarnoud; Humbert, Marc; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kuijpers, Taco; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lango-Allen, Hana; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Louka, Eleni; Machado, Rajiv; Ross, Rob Mackenzie; MacLaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; McDermott, Elizabeth; McJannet, Coleen; Meacham, Stuart; Meehan, Sharon; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Othman, Shokri; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo-Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rayner-Matthews, Paula; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Rosser, Elisabeth; Roughley, Catherine; Roy, Noémi; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schotte, Gwen; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth G.C.; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stark, Hannah; Stauss, Hans; Stein, Penelope; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; Vogt, Julie; von Ziegenweldt, Julie; Vonk Noordegraaf, Anton; Wakeling, Emma; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Watt, Christopher; Webster, ndrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Woods, Geoff; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Whitworth, James ; Smith, Philip S. ; Martin, Jose-Ezequiel ; West, Hannah ; Luchetti, Andrea ; Rodger, Faye ; Clark, Graeme ; Penkett, Chris ; Shakeel, Hassan ; Ahmed, Munaza ; Adlard, Julian ; Barwell, Julian ; Brewer, Carole ; Casey, Ruth T. ; Cole, Trevor ; Evans, Dafydd Gareth ; Fostira, Florentia ; Greenhalgh, Lynn ; Hanson, Helen ; Henderson, Alex ; Hoffman, Jonathan ; Izatt, Louise ; Kumar, Ajith ; Kwong, Ava ; Lalloo, Fiona ; Ong, Kai Ren ; Chen-Shtoyerman, Rakefet ; Searle, Claire ; Side, Lucy ; Skytte, Anne-Bine ; Snape, Katie ; Woodward, Emma R. ; Tischkowitz, Marc D. ; Maher, Eamonn R.
In The American Journal of Human Genetics 5 July 2018 103(1):3-18
Academic Journal
Ito, Yoko; Carss, Keren; Duarte, Sofia; Hartley, Taila; Keren, Boris; Kurian, Manju; Marey, Isabelle; Charles, Perinne; Mendonça, Carla; Nava, Caroline; Pfundt, Rolph; Sanchis-Juan, Alba; van Bokhoven, Hans; van Essen, Anthony; van Ravenswaaij-Arts, Conny; Boycott, Kym; Kernohan, Kristin; Dyack, Sarah; Raymond, F. Lucy; Aitman, Timothy; Bennett, David; Caulfield, Mark; Chinnery, Patrick; Gale, Daniel; Koziell, Ania; Kuijpers, Taco; Laffan, Michael; Maher, Eamonn; Markus, Hugh; Morrell, Nicholas; Ouwehand, Willem; Perry, David; Roberts, Irene; Smith, Kenneth G.C.; Thrasher, Adrian; Watkins, Hugh; Williamson, Catherine; Woods, Geoffrey; Ashford, Sofie; Bradley, John; Fletcher, Debra; Hammerton, Tracey; James, Roger; Kingston, Nathalie; Penkett, Christopher; Stirrups, Kathleen; Veltman, Marijke; Young, Tim; Brown, Matthew; Clements-Brod, Naomi; Davis, John; Dewhurst, Eleanor; Dolling, Helen; Erwood, Marie; Frary, Amy; Linger, Rachel; Martin, Jennifer; Papadia, Sofia; Rehnstrom, Karola; Stark, Hannah; Allsup, David; Austin, Steve; Bakchoul, Tamam; Bariana, Tadbir; Bolton-Maggs, Paula; Chalmers, Elizabeth; Collins, Janine; Collins, Peter; Erber, Wendy; Everington, Tamara; Favier, Remi; Freson, Kathleen; Furie, Bruce; Gattens, Michael; Gebhart, Johanna; Gomez, Keith; Greene, Daniel; Greinacher, Andreas; Gresele, Paolo; Hart, Daniel; Heemskerk, Johan W.M.; Henskens, Yvonne; Kazmi, Rashid; Keeling, David; Kelly, Anne; Lambert, Michele; Lentaigne, Claire; Liesner, Ri; Makris, Mike; Mangles, Sarah; Mathias, Mary; Millar, Carolyn; Mumford, Andrew; Nurden, Paquita; Payne, Jeanette; Pasi, John; Peerlinck, Kathelijne; Revel-Vilk, Shoshana; Richards, Michael; Rondina, Matthew; Roughley, Catherine; Schulman, Sol; Schulze, Harald; Scully, Marie; Sivapalaratnam, Suthesh; Stubbs, Matthew; Tait, R. Campbell; Talks, Kate; Thachil, Jecko; Toh, Cheng-Hock; Turro, Ernest; van Geet, Chris; de Vries, Minka; Warner, Timothy; Watson, Henry; Westbury, Sarah; Furnell, Abigail; Mapeta, Rutendo; Rayner-Matthews, Paula; Simeoni, Ilenia; Staines, Simon; Stephens, Jonathan; Watt, Christopher; Whitehorn, Deborah; Attwood, Antony; Daugherty, Louise; Deevi, Sri V.V.; Halmagyi, Csaba; Hu, Fengyuan; Matser, Vera; Meacham, Stuart; Megy, Karyn; Shamardina, Olga; Titterton, Catherine; Tuna, Salih; Yu, Ping; von Ziegenweldt, Julie; Astle, William; Bleda, Marta; Gräf, Stefan; Haimel, Matthias; Lango-Allen, Hana; Richardson, Sylvia; Calleja, Paul; Rankin, Stuart; Turek, Wojciech; Anderson, Julie; Bryson, Christine; Carmichael, Jenny; Mcjannet, Coleen; Stock, Sophie; Allen, Louise; Ambegaonkar, Gautum; Armstrong, Ruth; Arno, Gavin; Bitner-Glindzicz, Maria; Brady, Angie; Canham, Natalie; Chitre, Manali; Clement, Emma; Clowes, Virginia; Deegan, Patrick; Deshpande, Charu; Doffinger, Rainer; Firth, Helen; Flinter, Frances; French, Courtney; Gardham, Alice; Ghali, Neeti; Gissen, Paul; Grozeva, Detelina; Henderson, Robert; Hensiek, Anke; Holden, Simon; Holder, Muriel; Holder, Susan; Hurst, Jane; Josifova, Dragana; Krishnakumar, Deepa; Lees, Melissa; Maclaren, Robert; Maw, Anna; Mehta, Sarju; Michaelides, Michel; Moore, Anthony; Murphy, Elaine; Park, Soo-Mi; Parker, Alasdair; Patch, Chris; Paterson, Joan; Rankin, Julia; Reid, Evan; Rosser, Elisabeth; Sandford, Richard; Santra, Saikat; Scott, Richard; Sohal, Aman; Stein, Penelope; Thomas, Ellen; Thompson, Dorothy; Tischkowitz, Marc; Vogt, Julie; Wakeling, Emma; Wassmer, Evangeline; Webster, Andrew; Ali, Sonia; Ali, Souad; Boggard, Harm; Church, Colin; Coghlan, Gerry; Cookson, Victoria; Corris, Paul; Creaser-Myers, Amanda; Dacosta, Rosa; Dormand, Natalie; Eyries, Mélanie; Gall, Henning; Ghataorhe, Pavandeep; Ghio, Stefano; Ghofrani, Ardi; Gibbs, J. Simon R.; Girerd, Barbara; Greenhalgh, Alan; Hadinnapola, Charaka; Houweling, Arjan; Humbert, Marc; In’t Veld, Anna Huis; Kennedy, Fiona; Kiely, David; Kovacs, Gabor; Lawrie, Allan; Ross, Rob; Machado, Rajiv; Masati, Larahmie; Meehan, Sharon; Moledina, Shahin; Montani, David; Othman, Shokri; Peacock, Andrew; Pepke-Zaba, Joanna; Pollock, Val; Polwarth, Gary; Ranganathan, Lavanya; Rhodes, Christopher; Rue-Albrecht, Kevin; Schotte, Gwen; Shipley, Debbie; Soubrier, Florent; Southgate, Laura; Scelsi, Laura; Suntharalingam, Jay; Tan, Yvonne; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Vonk Noordegraaf, Anton; Walker, Sara; Wanjiku, Ivy; Wharton, John; Wilkins, Martin; Wort, Stephen; Yates, Katherine; Alachkar, Hana; Antrobus, Richard; Arumugakani, Gururaj; Bacchelli, Chiara; Baxendale, Helen; Bethune, Claire; Bibi, Shahnaz; Booth, Claire; Browning, Michael; Burns, Siobhan; Chandra, Anita; Cooper, Nichola; Davies, Sophie; Devlin, Lisa; Drewe, Elizabeth; Edgar, David; Egner, William; Ghurye, Rohit; Gilmour, Kimberley; Goddard, Sarah; Gordins, Pavel; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Harper, Lorraine; Hayman, Grant; Herwadkar, Archana; Huissoon, Aarnoud; Jolles, Stephen; Kelleher, Peter; Kumararatne, Dinakantha; Lear, Sara; Longhurst, Hilary; Lorenzo, Lorena; Maimaris, Jesmeen; Manson, Ania; Mcdermott, Elizabeth; Murng, Sai; Nejentsev, Sergey; Noorani, Sadia; Oksenhendler, Eric; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Richter, Alex; Samarghitean, Crina; Sargur, Ravishankar; Savic, Sinisa; Seneviratne, Suranjith; Sewell, Carrock; Staples, Emily; Stauss, Hans; Thaventhiran, James; Thomas, Moira; Welch, Steve; Willcocks, Lisa; Yeatman, Nigel; Yong, Patrick; Ancliff, Phil; Babbs, Christian; Layton, Mark; Louka, Eleni; Mcgowan, Simon; Mead, Adam; Roy, Noémi; Chambers, Jenny; Dixon, Peter; Estiu, Cecelia; Hague, Bill; Marschall, Hanns-Ulrich; Simpson, Michael; Chong, Sam; Emmerson, Ingrid; Ginsberg, Lionel; Gosal, David; Hadden, Rob; Horvath, Rita; Mahdi-Rogers, Mohamed; Manzur, Adnan; Marshall, Andrew; Matthews, Emma; Mccarthy, Mark; Reilly, Mary; Renton, Tara; Rice, Andrew; Themistocleous, Andreas; Vale, Tom; van Zuydam, Natalie; Walker, Suellen; Ormondroyd, Liz; Hudson, Gavin; Wei, Wei; Yu Wai Man, Patrick; Whitworth, James; Afzal, Maryam; Colby, Elizabeth; Saleem, Moin; Alavijeh, Omid; Cook, H. Terry; Johnson, Sally; Levine, Adam; Wong, Edwin K.S.; Tan, Rhea; Mackenzie, Alex; Majewski, Jacek; Brudno, Michael; Bulman, Dennis; Dyment, David
Am J Hum Genet
NIHR BioResource & Care4Rare Canada Consortium 2018, 'De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures', American journal of human genetics, vol. 103, no. 1, pp. 144-153. https://doi.org/10.1016/j.ajhg.2018.06.001
American Journal of Human Genetics, 103, 1, pp. 144-153
Ito, Y, Carss, K J, Duarte, S T, Hartley, T, Keren, B, Kurian, M A, Marey, I, Charles, P, Mendonca, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Koziell, A, Boycott, K M & Kernohan, K D & Dyack, S & Raymond, F L 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. ', American Journal of Human Genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001
NIHR BioResource & Care4Rare Canada Consortium 2018, 'De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures', American journal of human genetics, vol. 103, no. 1, pp. 144-153. https://doi.org/10.1016/j.ajhg.2018.06.001
American Journal of Human Genetics, 103, 1, pp. 144-153
Ito, Y, Carss, K J, Duarte, S T, Hartley, T, Keren, B, Kurian, M A, Marey, I, Charles, P, Mendonca, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Koziell, A, Boycott, K M & Kernohan, K D & Dyack, S & Raymond, F L 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. ', American Journal of Human Genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001
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