학술논문
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'학술논문'
에서 검색결과 80건 | 목록
1~20
Academic Journal
Marloes van den Berg; Zhonghua Shi; Wout J. Claassen; Pleuni Hooijman; Christopher T. A. Lewis; Jesper L. Andersen; Robbert J. van der Pijl; Sylvia J. P. Bogaards; Stefan Conijn; Eva L. Peters; Leon P. L. Begthel; Bas Uijterwijk; Johan Lindqvist; Paul R. Langlais; Armand R. J. Girbes; Sandra Stapel; Henk Granzier; Kenneth S. Campbell; Weikang Ma; Thomas Irving; Darren T. Hwee; James J. Hartman; Fady I. Malik; Marinus Paul; Albertus Beishuizen; Julien Ochala; Leo Heunks; Coen A. C. Ottenheijm
Science Translational Medicine, 16, 758
Academic Journal
Willem J. van der Laarse; Sylvia J. P. Bogaards; Ingrid Schalij; Anton Vonk Noordegraaf; Frédéric M. Vaz; Duncan van Groen
van der Laarse, W J , Bogaards , S J P , Schalij, I, Noordegraaf, A V, Vaz, F M & van Groen, D 2022, 'Work and oxygen consumption of isolated right ventricular papillary muscle in experimental pulmonary hypertension', Journal of Physiology, vol. 600, no. 20, pp. 4465-4484. https://doi.org/10.1113/JP282991
Academic Journal
Maicon Landim-Vieira; Weikang Ma; Taejeong Song; Hosna Rastegarpouyani; Henry Gong; Isabella Leite Coscarella; Sylvia J. P. Bogaards; Stefan P. Conijn; Coen A. C. Ottenheijm; Hyun S. Hwang; Maria Papadaki; Bjorn C. Knollmann; Sakthivel Sadayappan; Thomas C. Irving; Vitold E. Galkin; P. Bryant Chase; Jose Renato Pinto
Proc Natl Acad Sci U S A
Landim-Vieira, M, Ma, W, Song, T, Rastegarpouyani, H, Gong, H, Coscarella, I L,Bogaards , S J P , Conijn, S P , Ottenheijm, C A C, Hwang, H S, Papadaki, M, Knollmann, B C, Sadayappan, S, Irving, T C, Galkin, V E, Chase, P B & Pinto, J R 2023, 'Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function', Proceedings of the National Academy of Sciences of the United States of America, vol. 120, no. 23, e2221244120, pp. e2221244120. https://doi.org/10.1073/pnas.2221244120
Landim-Vieira, M, Ma, W, Song, T, Rastegarpouyani, H, Gong, H, Coscarella, I L,
Academic Journal
Rhodes, Christopher J.; Batai, Ken; Bleda, Marta; Haimel, Matthias; Southgate, Laura; Germain, Marine; Pauciulo, Michael W.; Hadinnapola, Charaka; Aman, Jurjan; Girerd, Barbara; Arora, Amit; Knight, Jo; Hanscombe, Ken B.; Karnes, Jason H.; Kaakinen, Marika; Gall, Henning; Ulrich, Anna; Harbaum, Lars; Cebola, Ines; Ferrer, Jorge; Lutz, Katie; Swietlik, Emilia M.; Ahmad, Ferhaan; Amouyel, Philippe; Archer, Stephen L.; Argula, Rahul; Austin, Eric D.; Badesch, David; Bakshi, Sahil; Barnett, Christopher; Benza, Raymond; Bhatt, Nitin; Bogaard, Harm J.; Burger, Charles D.; Chakinala, Murali; Church, Colin; Coghlan, John G.; Condliffe, Robin; Corris, Paul A.; Danesino, Cesare; Debette, Stephanie; Elliott, C. Gregory; Elwing, Jean; Eyries, Melanie; Fortin, Terry; Franke, Andre; Frantz, Robert P.; Frost, Adaani; Garcia, Joe G. N.; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Harley, John; He, Hua; Hill, Nicholas S.; Hirsch, Russel; Houweling, Arjan C.; Howard, Luke S.; Ivy, Dunbar; Kiely, David G.; Klinger, James; Kovacs, Gabor; Lahm, Tim; Laudes, Matthias; Machado, Rajiv D.; Ross, Robert V. MacKenzie; Marsolo, Keith; Martin, Lisa J.; Moledina, Shahin; Montani, David; Nathan, Steven D.; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Oudiz, Ronald J.; Ouwehand, Willem H.; Peacock, Andrew J.; Pepke-Zaba, Joanna; Rehman, Zia; Robbins, Ivan; Roden, Dan M.; Rosenzweig, Erika B.; Saydain, Ghulam; Scelsi, Laura; Schilz, Robert; Seeger, Werner; Shaffer, Christian M.; Simms, Robert W.; Simon, Marc; Sitbon, Olivier; Suntharalingam, Jay; Tang, Haiyang; Tchourbanov, Alexander Y.; Thenappan, Thenappan; Torres, Fernando; Toshner, Mark R.; Treacy, Carmen M.; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Walsworth, Anna K.; Walter, Robert E.; Wharton, John; White, R. James; Wilt, Jeffrey; Wort, Stephen J.; Yung, Delphine; Lawrie, Allan; Humbert, Marc; Soubrier, Florent; Tregouet, David-Alexandre; Prokopenko, Inga; Kittles, Richard; Graf, Stefan; Nichols, William C.; Trembath, Richard C.; Desai, Ankit A.; Morrell, Nicholas W.; Wilkins, Martin R.; Adlard, Julian; Ahmed, Munaza; Aitman, Tim; Alachkar, Hana; Allsup, David; Almeida-King, Jeff; Ancliff, Philip; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Ashford, Sofie; Astle, William; Attwood, Anthony; Babbs, Chris; Bakchoul, Tamam; Bariana, Tadbir; Barwell, Julian; Bennett, David; Bentley, David; Bierzynska, Agnieszka; Biss, Tina; Bogaard, Harm; Bourne, Christian; Boyce, Sara; Bradley, John; Breen, Gerome; Brennan, Paul; Brewer, Carole; Brown, Matthew; Browning, Michael; Buchan, Rachel; Buckland, Matthew; Bueser, Teofila; Burns, Siobhan; Burren, Oliver; Calleja, Paul; Carr-White, Gerald; Carss, Keren; Casey, Ruth; Caulfield, Mark; Chambers, John; Chambers, Jennifer; Cheng, Floria; Chinnery, Patrick F.; Christian, Martin; Brod, Naomi Clements; Coghlan, Gerry; Colby, Elizabeth; Cole, Trevor; Collins, Janine; Collins, Peter; Colombo, Camilla; Cook, Stuart; Cook, Terry; Cooper, Nichola; Corris, Paul; Crisp-Hihn, Abigail; Curry, Nicola; Daniels, Matthew; Daugherty, Louise; Davis, John; Deevi, Sri V. V.; Dent, Timothy; Dewhurst, Eleanor; Dixon, Peter; Downes, Kate; Drazyk, Anna; Drewe, Elizabeth; Dutt, Tina; Edgar, David; Edwards, Karen; Egner, William; Erber, Wendy; Erwood, Marie; Estiu, Maria C.; Evans, Gillian; Evans, Dafydd Gareth; Everington, Tamara; Eyries, Mlanie; Favier, Remi; Fletcher, Debra; Fox, James; Frary, Amy; French, Courtney; Freson, Kathleen; Frontini, Mattia; Gale, Daniel; Geoghegan, Claire; Gerighty, Terry; Gibbs, Simon; Gilmour, Kimberley; Goddard, Sarah; Gomez, Keith; Gordins, Pavels; Gosal, David; Grassi, Luigi; Greene, Daniel; Greenhalgh, Lynn; Greinacher, Andreas; Gresele, Paolo; Griffiths, Philip; Grigoriadou, Sofia; Grocock, Russell; Grozeva, Detelina; Hackett, Scott; Hague, William; Hall, Matthew; Hanson, Helen; Harkness, Kirsty; Harper, Andrew; Harris, Claire; Hart, Daniel; Hassan, Ahamad; Hayman, Grant; Henderson, Alex; Hoffmann, Jonathan; Horvath, Rita; Houweling, Arjan; Howard, Luke; Hu, Fengyuan; Hudson, Gavin; Hughes, Joseph; Huissoon, Aarnoud; Humphray, Sean; Hunter, Sarah; Hurles, Matthew; Izatt, Louise; James, Roger; Johnson, Sally; Jolles, Stephen; Jolley, Jennifer; Jurkute, Neringa; Kasanicki, Mary; Kazkaz, Hanadi; Kazmi, Rashid; Kelleher, Peter; Kiely, David; Kingston, Nathalie; Klima, Robert; Kostadima, Myrto; Koziell, Ania; Kreuzhuber, Roman; Kuijpers, Taco; Kumar, Ajith; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael; Lalloo, Fiona; Lambert, Michele; Allen, Hana Lango; Layton, Mark; Lentaigne, Claire; Levine, Adam; Linger, Rachel; Longhurst, Hilary; Louka, Eleni; Ross, Robert MacKenzie; Madan, Bella; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Mapeta, Rutendo; Marchbank, Kevin; Marks, Stephen; Markus, Hugh S.; Marschall, Hanns-Ulrich, 1954; Marshall, Andrew; Martin, Jennifer; Mathias, Mary; Matthews, Emma; Maxwell, Heather; McAlinden, Paul; McCarthy, Mark; Meacham, Stuart; Mead, Adam; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn; Moore, Tony; Morrell, Nicholas; Mozere, Monika; Muir, Keith; Mumford, Andrew; O'Sullivan, Jennifer; Obaji, Samya; Okoli, Steven; Ong, Kai Ren; Ormondroyd, Elizabeth; Ouwehand, Willem; Papadia, Sofia; Park, Soo-Mi; Parry, David; Paterson, Joan; Peacock, Andrew; Peden, John; Peerlinck, Kathelijne; Penkett, Christopher; Petersen, Romina; Pyle, Angela; Rankin, Stuart; Rao, Anupama; Raymond, F. Lucy; Rayner-Matthews, Paula; Rees, Christine; Rendon, Augusto; Renton, Tara; Rice, Andrew; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Roughley, Catherine; Roy, Noemi; Sadeghi-Alavijeh, Omid; Saleem, Moin; Samani, Nilesh; Sanchis-Juan, Alba; Sargur, Ravishankar; Satchell, Simon; Savic, Sinisa; Schulman, Sol; Scully, Marie; Searle, Claire; Sewell, Carrock; Seyres, Denis; Shapiro, Susie; Sharmardina, Olga; Shtoyerman, Rakefet; Sibson, Keith; Side, Lucy; Simeoni, Ilenia; Simpson, Michael; Sivapalaratnam, Suthesh; Skytte, Anne-Bine; Smith, Katherine; Smith, Kenneth G. C.; Snape, Katie; Staines, Simon; Staples, Emily; Stark, Hannah; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Swietlik, Emilia; Tait, R. Campbell; Talks, Kate; Tan, Rhea; Thaventhiran, James; Themistocleous, Andreas; Thomas, Moira; Thomson, Kate; Thrasher, Adrian; Thys, Chantal; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Traylor, Matthew; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Vale, Tom; Van Geet, Chris; Van Zuydam, Natalie; Vazquez-Lopez, Marta; Von Ziegenweidt, Julie; Waisfisz, Quintin; Walker, Suellen; Ware, James; Watkins, Hugh; Watt, Christopher; Webster, Andrew; Wei, Wei; Welch, Steven; Wessels, Julie; Westbury, Sarah; Westwood, John-Paul; Whitehorn, Deborah; Whitworth, James; Williamson, Catherine; Wong, Edwin; Wood, Nicholas; Wood, Yvette; Woods, Geoff; Woodward, Emma; Wort, Stephen; Worth, Austen; Yates, Katherine; Yong, Patrick; Young, Tim; Yu, Ping; Yu-Wai-Man, Patrick; Theuer, Alison; Malur, Anagha; Williams, Ann; Dotson, Anne; Warden, Ashley; Harrington, Brandy; Vang, Brenda; Ziemak, Caitlin; Casanova, Nancy; Caskey, Elizabeth; MacDonald, Catherine; Rowley, Courtney; Larimore, Daniel; Brady, Daniela; Tomer, David; Davis, Anne; Broach, Debra; Devereux, Jane; Lovato, Ellen; Stratton, Eric; Turk, Erin; Jackson, Esperanza; Paciotti, Gina; Peichel, Gretchen; Birru, Hellina; del Junco, Holly; Ingledue, Rebecca; Bruno, Jackie; Drake, Jan; Marks, Jennifer; Pisarcik, Jessica; Spears, Jill; Santiago, Joseph; DeMartino, Jordyn; Beckmann, Joy; Palmer, Julia; Visnaw, Karen; Kennedy, Karla; Lewis, Karlise; Miller-Reed, Kathleen; Hannon, Kelly; McClain, Kimberly; Dillon, Laura; Olanipekun, Lekan; Mendibles, Lillian; Hawke, Lindsey; Brody, Linnea; Durst, Louise; Andrews, Mary; Allahua, Melissa; Stratoberdha, Melissa; Lemma, Merte; Cope, Molly; Franzo, Mya; Feliz, Natalia; Hawkes, Nicholas; Norwood, Tracy; Wilson, Opal; Palmisciano, Amy; Gruhlke, Peggy; Correa, Priscilla; Blake, Randy; Karnekar, Reema; Do, Robyn; Rohwer, Kristal; Ahmed, Sara; Schiltz, Kimberly; Scovel, Page; Cordell, Shannon; Heuerman, Sharon; Ahmad, Shazzra; Szuberla, Sylwia; Roads, Tammy; Iem, Thoeun; Mcgaha, Traci; Urban, Tracy; Aston, Valerie; Ayesh, Waleed; Light, Allison; Arkon, Abby; Tavlarides, Andrea; Anderson, Audrey; Bindu, John; Boekwig, Deedre; Singleton, Donna; Abrea, Inna; Lee, Jennifer; Ormiston, Mark; Whitman, Renesa; Holy, Royanne; Almeida-Peters, Sisama; Igenoza, Tosin; Farber, Hap; Reponen, Auvo; Barve, Mukta; Gygi, Amber; Winslow, Clayborne
LANCET RESPIRATORY MEDICINE. 7(3):227-238
Academic Journal
Lupetti, Antonella; Brouwer, Carlo P. J. M.; Bogaards, Sylvia J. P.; Welling, Mick M.; de Heer, Emile; Campa, Mario; van Dissel, Jaap T.; Friesen, Robert H. E.; Nibbering, Peter H.
The Journal of Infectious Diseases, 2007 Nov 01. 196(9), 1416-1424.
Academic Journal
de Winter, Josine M.; Molenaar, Joery P.; Yuen, Michaela; van der Pijl, Robbert; Shen, Shengyi; Conijn, Stefan; van de Locht, Martijn; Willigenburg, Menne; Bogaards, Sylvia J.P.; van Kleef, Esmee S.B.; Lassche, Saskia; Persson, Malin; Rassier, Dilson E.; Sztal, Tamar E.; Ruparelia, Avnika A.; Oorschot, Viola; Ramm, Georg; Hall, Thomas E.; Xiong, Zherui; Johnson, Christopher N.; Li, Frank; Kiss, Balazs; Lozano-Vidal, Noelia; Boon, Reinier A.; Marabita, Manuela; Nogara, Leonardo; Blaauw, Bert; Rodenburg, Richard J.; Kusters, Benno; Doorduin, Jonne; Beggs, Alan H.; Granzier, Henk; Campbell, Ken; Ma, Weikang; Irving, Thomas; Malfatti, Edoardo; Romero, Norma B.; Bryson-Richardson, Robert J.; van Engelen, Baziel G.M.; Voermans, Nicol C.; Ottenheijm, Coen A.C.
Journal of Clinical Investigation. February, 2020, Vol. 130 Issue 2, p754, 14 p .
Academic Journal
Carmody, Colleen; Ogawa-Wong, Ashley N.; Martin, Cecilia; Luongo, Cristina; Zuidwijk, Marian; Sager, Benjamin; Petersen, Travis; Guetter, Adriana Roginski; Janssen, Rob; Wu, Elizabeth Y.; Bogaards, Sylvia; Neumann, Neil M.; Hau, Kaman; Marsili, Alessandro; Boelen, Anita; Silva, J. Enrique; Dentice, Monica; Salvatore, Domenico; Wagers, Amy J.; Larsen, P. Reed; Simonides, Warner S.; Zavacki, Ann Marie
Endocrinology. May, 2019, Vol. 160 Issue 5, p1205, 18 p .
Academic Journal
Barbara Joureau; Josine Marieke de Winter; Stefan Conijn; Sylvia J. P. Bogaards; Igor Kovacevic; Albert Kalganov; Malin Persson; Johan Lindqvist; Ger J. M. Stienen; Thomas C. Irving; Weikang Ma; Michaela Yuen; Nigel F. Clarke; Dilson E. Rassier; Edoardo Malfatti; Norma B. Romero; Alan H. Beggs; Coen A. C. Ottenheijm
Joureau, B, de Winter, J M, Conijn, S, Bogaards , S J P , Kovacevic, I, Kalganov, A, Persson, M, Lindqvist, J , Stienen, G J M, Irving, T C, Ma, W, Yuen, M, Clarke, N F, Rassier, D E, Malfatti, E, Romero, N B, Beggs, A H & Ottenheijm, C A C 2018, 'Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)', Annals of Neurology, vol. 83, no. 2, pp. 269-282. https://doi.org/10.1002/ana.25144
Academic Journal
Zhonghua Shi; Leo Heunks; Marianna Bugiani; Sylvia J P Bogaards; Stefan Conijn; Yeszamin Onderwater; Pedro Espinosa; Diewertje I Bink; Marloes van den Berg; Martijn van de Locht; Hans van der Hoeven; Reinier A Boon; Coen A C Ottenheijm
BMJ Open Respiratory Research, Vol 8, Iss 1 (2021)
Academic Journal
Wout J. Claassen; Marloes van denBerg; Zhong Hua Shi; Rianne. J. Baelde; Sylvia Bogaards; Luuk Bonis; Heleen Hakkeling; Arezou Bamyani; Gerben J. Schaaf; Albertus Beishuizen; Chris Dickhoff; Reinier A. Boon; Leo Heunks; Tyler J. Kirby; Coen A. C. Ottenheijm
Journal of Cachexia, Sarcopenia and Muscle, Vol 17, Iss 1, Pp n/a-n/a (2026)
Academic Journal
Josine M. de Winter; Joery P. Molenaar; Michaela Yuen; Robbert van der Pijl; Shengyi Shen; Stefan Conijn; Martijn van de Locht; Menne Willigenburg; Sylvia J.P. Bogaards; Esmee S.B. van Kleef; Saskia Lassche; Malin Persson; Dilson E. Rassier; Tamar E. Sztal; Avnika A. Ruparelia; Viola Oorschot; Georg Ramm; Thomas E. Hall; Zherui Xiong; Christopher N. Johnson; Frank Li; Balazs Kiss; Noelia Lozano-Vidal; Reinier A. Boon; Manuela Marabita; Leonardo Nogara; Bert Blaauw; Richard J. Rodenburg; Benno Küsters; Jonne Doorduin; Alan H. Beggs; Henk Granzier; Ken Campbell; Weikang Ma; Thomas Irving; Edoardo Malfatti; Norma B. Romero; Robert J. Bryson-Richardson; Baziel G.M. van Engelen; Nicol C. Voermans; Coen A.C. Ottenheijm
The Journal of Clinical Investigation, Vol 134, Iss 3 (2024)
Academic Journal
Joureau, Barbara; de Winter, Josine Marieke; Conijn, Stefan; Bogaards, Sylvia J. P.; Kovacevic, Igor; Kalganov, Albert; Persson, Malin; Lindqvist, Johan; Stienen, Ger J. M.; Irving, Thomas C.; Ma, Weikang; Yuen, Michaela; Clarke, Nigel F.; Rassier, Dilson E.; Malfatti, Edoardo; Romero, Norma B.; Beggs, Alan H.; Ottenheijm, Coen A. C.
Annals of Neurology. Feb 01, 2018 83(2):269-282
Academic Journal
Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D.; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A.; Gibbs, Simon; Girerd, Barbara; Holden, Simon; Humbert, Marc; Kiely, David G.; Lawrie, Allan; Machado, Rajiv; MacKenzie Ross, Robert; Moledina, Shahin; Montani, David; Newnham, Michael; Peacock, Andrew; Pepke-Zaba, Joanna; Rayner-Matthews, Paula; Shamardina, Olga; Soubrier, Florent; Southgate, Laura; Suntharalingam, Jay; Toshner, Mark; Trembath, Richard; Noordegraaf, Anton Vonk; Wilkins, Martin R.; Wort, Stephen J.; Wharton, John; Gräf, Stefan; Morrell, Nicholas W.; Aitman, Timothy; Bennett, David; Caulfield, Mark; Chinnery, Patrick; Gale, Daniel; Koziell, Ania; Kuijpers, Taco W; Laffan, Michael A; Maher, Eamonn; Markus, Hugh S; Ouwehand, Willem H; Perry, David; Raymond, F Lucy; Roberts, Irene; Smith, Kenneth; Thrasher, Adrian; Watkins, Hugh; Williamson, Catherine; Woods, Geoffrey; Ashford, Sofie; Bradley, John R; Fletcher, Debra; Hammerton, Tracey; James, Roger; Kingston, Nathalie; Ouwehand, Willem H; Penkett, Christopher J; Raymond, F Lucy; Stirrups, Kathleen; Veltman, Marijke; Young, Tim; Ashford, Sofie; Brown, Matthew; Clements-Brod, Naomi; Davis, John; Dewhurst, Eleanor; Erwood, Marie; Frary, Amy; Linger, Rachel; Papadia, Sofia; Rehnstrom, Karola; Stark, Hannah; Allsup, David; Austin, Steve; Bakchoul, Tamam; Bariana, Tadbir K; Bolton-Maggs, Paula; Chalmers, Elizabeth; Collins, Peter; Erber, Wendy N; Everington, Tamara; Favier, Remi; Freson, Kathleen; Furie, Bruce; Gattens, Michael; Gomez, Keith; Greene, Daniel; Greinacher, Andreas; Hart, Daniel; Heemskerk, Johan WM; Henskens, Yvonne; Kazmi, Rashid; Keeling, David; Kelly, Anne M; Laffan, Michael A; Lambert, Michele P; Lentaigne, Claire; Liesner, Ri; Mangles, Sarah; Mathias, Mary; Millar, Carolyn M; Mumford, Andrew; Nurden, Paquita; 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Nature
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Primary Immunodeficiency Consortium for the NIHR Bioresource, Evans, D G & Daniels, MJ 2020, 'Whole-genome sequencing of a sporadic primary immunodeficiency cohort', Nature, vol. 583, no. 7814, pp. 90-95. https://doi.org/10.1038/s41586-020-2265-1, https://doi.org/10.1038/s41586-020-2265-1
Thaventhiran,J E D, Lango Allen, H, Burren, O S, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, J H R, Simeoni, I, Rivers, E, Maimaris, J , Penkett, C J , Stephens, J , Deevi, S V V, Sanchis-Juan, A, Gleadall, N S, Thomas, M J , Sargur, R B, Gordins, P , Baxendale, H E, Brown, M, Tuijnenburg, P , Worth, A, Hanson, S, Linger, R J , Buckland, M S, Rayner-Matthews, P J , Gilmour, K C, Samarghitean, C, Seneviratne, S L, Sansom, D M, Lynch, A G, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, S F, Karlsen, T H, Stirrups, K E, Cutler, A J , Kumararatne, D S, Chandra, A, Edgar, J D M, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, A P , Johnson, M, Thomas, D C, Wei, W & Primary Immunodeficiency Consortium for the NIHR Bioresource 2020, 'Whole-genome sequencing of a sporadic primary immunodeficiency cohort', Nature, vol. 583, no. 7814, pp. 90-95. https://doi.org/10.1038/s41586-020-2265-1
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Primary Immunodeficiency Consortium for the NIHR Bioresource, Evans, D G & Daniels, M
Thaventhiran,
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