학술논문
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'학술논문'
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Academic Journal
In: BMJ (Clinical research ed.) . (BMJ (Clinical research ed.), 26 July 2017, 358:j3555)
Academic Journal
Reitsma, S.; Sindi, S.; Kissau, D.; Burthem, J.; Bolton-Maggs, P.; Gidley, G.; Hansen, K.; Leiderman, K.; Wolberg, A.
Research and Practice in Thrombosis and Haemostasis. 7
Academic Journal
Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; Carss, K; Stephens, J; Stirrups, K; Penkett, C; Mapeta, R; Ashford, S; Megy, K; Shakeel, H; Ahmed, M; Adlard, J; Barwell, J; Brewer, C; Casey, RT; Armstrong, R; Cole, T; Evans, DG; Fostira, F; Greenhalgh, L; Hanson, H; Henderson, A; Hoffman, J; Izatt, L; Kumar, A; Kwong, A; Lalloo, F; Ong, KR; Paterson, J; Park, S-M; Chen-Shtoyerman, R; Searle, C; Side, L; Skytte, A-B; Snape, K; Woodward, ER; Tischkowitz, MD; Maher, ER; Aitman, T; Alachkar, H; Ali, S; Allen, L; Allsup, D; Ambegaonkar, G; Anderson, J; Antrobus, R; Arno, G; Arumugakani, G; Astle, W; Attwood, A; Austin, S; Bacchelli, C; Bakchoul, T; Bariana, TK; Baxendale, H; Bennett, D; Bethune, C; Bibi, S; Bitner-Glindzicz, M; Bleda, M; Boggard, H; Bolton-Maggs, P; Booth, C; Bradley, JR; Brady, A; Brown, M; Browning, M; Bryson, C; Burns, S; Calleja, P; Canham, N; Carmichael, J; Caulfield, M; Chalmers, E; Chandra, A; Chinnery, P; Chitre, M; Church, C; Clement, E; Clements-Brod, N; Clowes, V; Coghlan, G; Collins, P; Cookson, V; Cooper, N; Corris, P; Creaser-Myers, A; Dacosta, R; Daugherty, L; Davies, S; Davis, J; De Vries, M; Deegan, P; Deevi, SVV; Deshpande, C; Devlin, L; Dewhurst, E; Dixon, P; Doffinger, R; Dormand, N; Drewe, E; Edgar, D; Egner, W; Erber, WN; Erwood, M; Everington, T; Favier, R; Firth, H; Fletcher, D; Flinter, F; Frary, A; Freson, K; Furie, B; Furnell, A; Gale, D; Gardham, A; Gattens, M; Ghali, N; Ghataorhe, PK; Ghurye, R; Gibbs, S; Gilmour, K; Gissen, P; Goddard, S; Gomez, K; Gordins, P; Graf, S; Gräf, S; Greene, D; Greenhalgh, A; Greinacher, A; Grigoriadou, S; Grozeva, D; Hackett, S; Hadinnapola, C; Hague, R; Haimel, M; Halmagyi, C; Hammerton, T; Hart, D; Hayman, G; Heemskerk, JWM; Henderson, R; Hensiek, A; Henskens, Y; Herwadkar, A; Holden, S; Holder, M; Holder, S; Hu, F; Veld, A; Huissoon, A; Humbert, M; Hurst, J; James, R; Jolles, S; Josifova, D; Kazmi, R; Keeling, D; Kelleher, P; Kelly, AM; Kennedy, F; Kiely, D; Kingston, N; Koziell, A; Krishnakumar, D; Kuijpers, TW; Kuijpers, T; Kumararatne, D; Kurian, M; Laffan, MA; Lambert, MP; Allen, HL; Lango-Allen, H; Lawrie, A; Lear, S; Lees, M; Lentaigne, C; Liesner, R; Linger, R; Longhurst, H; Lorenzo, L; Louka, E; Machado, R; Ross, RM; Maclaren, R; Maher, E; Maimaris, J; Mangles, S; Manson, A; Markus, HS; Martin, J; Masati, L; Mathias, M; Matser, V; Maw, A; McDermott, E; McJannet, C; Meacham, S; Meehan, S; Mehta, S; Michaelides, M; Millar, CM; Moledina, S; Moore, A; Morrell, N; Mumford, A; Murng, S; Murphy, E; Nejentsev, S; Noorani, S; Nurden, P; Oksenhendler, E; Othman, S; Ouwehand, WH; Papadia, S; Parker, A; Pasi, J; Patch, C; Payne, J; Peacock, A; Peerlinck, K; Penkett, CJ; Pepke-Zaba, J; Perry, D; Perry, DJ; Pollock, V; Polwarth, G; Ponsford, M; Qasim, W; Quinti, I; Rankin, S; Rankin, J; Raymond, FL; Rayner-Matthews, P; Rehnstrom, K; Reid, E; Rhodes, CJ; Richards, M; Richardson, S; Richter, A; Roberts, I; Rondina, M; Rosser, E; Roughley, C; Roy, N; Rue-Albrecht, K; Samarghitean, C; Sanchis-Juan, A; Sandford, R; Santra, S; Sargur, R; Savic, S; Schotte, G; Schulman, S; Schulze, H; Scott, R; Scully, M; Seneviratne, S; Sewell, C; Shamardina, O; Shipley, D; Simeoni, I; Sivapalaratnam, S; Smith, KGC; Sohal, A; Southgate, L; Staines, S; Staples, E; Stark, H; Stauss, H; Stein, P; Stock, S; Suntharalingam, J; Talks, K; Tan, Y; Thachil, J; Thaventhiran, J; Thomas, E; Thomas, M; Thompson, D; Thrasher, A; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Van Geet, C; Veltman, M; Vogt, J; Von Ziegenweldt, J; Noordegraaf, AV; Wakeling, E; Wanjiku, I; Warner, TQ; Wassmer, E; Watkins, H; Watt, C; Webster, N; Welch, S; Westbury, S; Wharton, J; Whitehorn, D; Wilkins, M; Willcocks, L; Williamson, C; Woods, G; Wort, J; Yeatman, N; Yong, P; Young, T; Yu, P
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American journal of human genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
Whitworth, J, Smith,P S, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, R T, Armstrong, R, Cole, T, Evans, D G, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, K R, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, E R & NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, ' Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes ', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18 . https://doi.org/10.1016/j.ajhg.2018.04.013
NIHR BioResource Rare Diseases Consortium & Evans, D G 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', Cell, vol. 103, no. 1. https://doi.org/10.1016/j.ajhg.2018.04.013
American Journal of Human Genetics
AMERICAN JOURNAL OF HUMAN GENETICS
NIHR BioResource Rare Diseases Consortium 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American journal of human genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
Whitworth, J, Smith,
2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18. https://doi.org/10.1016/j.ajhg.2018.04.013
2018, ' Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes ', American Journal of Human Genetics, vol. 103, no. 1, pp. 3-18 . https://doi.org/10.1016/j.ajhg.2018.04.013
NIHR BioResource Rare Diseases Consortium & Evans, D G 2018, 'Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes', Cell, vol. 103, no. 1. https://doi.org/10.1016/j.ajhg.2018.04.013
American Journal of Human Genetics
Academic Journal
British Journal of Haematology. Apr 01, 2007 137 Suppl 1:84-84
Human errors in manual techniques for ABO/D grouping are associated with potentially lethal outcomes
Academic Journal
Transfusion Medicine. 29:262-267
Academic Journal
Vlaar, Alexander PJ; Toy, Pearl; Fung, Mark; Looney, Mark R; Juffermans, Nicole P; Bux, Juergen; Bolton‐Maggs, Paula; Peters, Anna L; Silliman, Christopher C; Kor, Daryl J; Kleinman, Steve
Transfusion
Transfusion, vol 59, iss 7
Transfusion, vol 59, iss 7
Academic Journal
Johnson, B.; Lowe, G. C.; Futterer, J.; Lordkipanidzé, M.; Macdonald, D.; Simpson, M. A.; Sanchez-Guiú, I.; Drake, S.; Bem, D.; Leo, V.; Fletcher, S. J.; Dawood, B.; Rivera, J.; Allsup, D.; Biss, T.; Bolton-Maggs, P. H. B.; Collins, P.; Curry, N.; Grimley, C.; James, B.; Makris, M.; Motwani, J.; Pavord, S.; Talks, K.; Thachil, J.; Wilde, J.; Williams, M.; Harrison, P.; Gissen, P.; Mundell, S.; Mumford, A.; Daly, M. E.; Watson, S. P.; Morgan, N. V.; Lordkipanidze, M.; Sanchez-Guiu, I.; Bolton-Maggs, P. H.; on behalf of the UK GAPP Study Group
Haematologica, Vol 101, Iss 10 (2016)
Johnson, B, Lowe, G C, Futterer, J, Lordkipanidze', M, MacDonald, D, Simpson, M A, Sanchez Guiu', I, Drake, S, Bem, D, Leo, V, Fletcher, S J, Dawood, B, Rivera, J, Allsup, D, Biss, T,Bolton -Maggs , P H B, Collins, P , Curry, N, Grimley, C, James, B, Makris, M, Motwani, J, Pavord, S, Talks, K, Thachil, J, Wilde, J, Williams, M, Harrison, P , Gissen, P , Mundell, S J, Mumford, A, Daly, M E, Watson, S P , Morgan, N V 2016, 'Whole Exome Sequencing Identifies Genetic Variants In Inherited Thrombocytopenia With Secondary Qualitative Function Defects', Haematologica, vol. 101, no. 10, pp. 1170-1179. https://doi.org/10.3324/haematol.2016.146316
Johnson, B, Lowe, G C, Futterer, J, Lordkipanidzé, M, Macdonald, D, Simpson, M A, Sanchez-Guiú, I, Drake, S, Bem, D, Leo, V, Fletcher, S J, Dawood, B, Rivera, J, Allsup, D, Biss, T,Bolton -Maggs , P H, Collins, P , Curry, N, Grimley, C, James, B, Makris, M, Motwani, J, Pavord, S, Talks, K, Thachil, J, Wilde, J, Williams, M, Harrison, P , Gissen, P , Mundell, S, Mumford, A, Daly, M E, Watson, S P & Morgan, N V 2016, ' Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects ', Haematologica, vol. 101, no. 10, pp. 1170-1179 . https://doi.org/10.3324/haematol.2016.146316
Johnson, B, Lowe, G C, Futterer, J, Lordkipanidze', M, MacDonald, D, Simpson, M A, Sanchez Guiu', I, Drake, S, Bem, D, Leo, V, Fletcher, S J, Dawood, B, Rivera, J, Allsup, D, Biss, T,
Johnson, B, Lowe, G C, Futterer, J, Lordkipanidzé, M, Macdonald, D, Simpson, M A, Sanchez-Guiú, I, Drake, S, Bem, D, Leo, V, Fletcher, S J, Dawood, B, Rivera, J, Allsup, D, Biss, T,
Academic Journal
E. M. Wood; A. L. Ang; A. Bisht; P. H. Bolton‐Maggs; A. G. Bokhorst; O. Flesland; K. Land; J. C. Wiersum‐Osselton; M. R. Schipperus; P. Tiberghien; B. I. Whitaker
Transfusion Medicine. 29:221-230
Academic Journal
Stapley, RJ; Poulter, NS; Khan, AO; Smith, CW; Bignell, P; Fratter, C; Lester, W; Lowe, G; Morgan, NV; Morgan, N; Watson, S; Harrison, P; Lordkipanidze, M; Mumford, AD; Mundell, SJ; Gissen, P; Daly, ME; Clark, J; Williams, M; Motwani, J; Marshall, D; Lawson, N; Nyatanga, P; Mann, P; Kirwan, J; Percy, C; Green, P; Hupston, H; Nagapachetty, K; Dwenger, E; Rourke, AO; Pope, M; Edmead, C; Greenway, A; Makris, M; Payne, J; Pavord, S; Gooding, R; Dattani, R; Grimley, GDC; Stokley, S; Astwood, E; Longmuir, K; Chang, C; Foros, M; Kightley, M; Trower, L; Thachil, J; Bolton Maggs, P; Hay, C; Pike, G; Will, A; Grainger, J; Foulkes, M; Fareh, M; Talks, K; Biss, T; Kesteven, P; Hanley, J; Vowles, J; Basey, L; Knaggs, K; Barnes, M; Collins, P; Rayment, R; Alikhan, R; Rebecca Morris, AG; Mansell, D; Toh, CH; Martlew, V; Murphy, E; Lachmann, R; Rose, P; Chapman, O; Lokare, A; Marshall, K; Khan, N; Keeling, D; Curry, N; Giangrande, P; Austin, S; Bevan, D; Alamelu, J; Allsup, D; Fletcher, A; Gladstone, K; Fenwick, J; Woods, P; Camp, D; James, B; Preston, S; Spencer, C; Pike, A; Lai-Wah, C; Thomas, A; Myers, B; Evans, G; Elliot, K; Davies, K; Graham, C
Academic Journal
Vlaar, Alexander P. J.; Toy, Pearl; Fung, Mark; Looney, Mark R.; Juffermans, Nicole P.; Bux, Juergen; Bolton-Maggs, P.; Peters, Anna L.; Silliman, Christopher C.; Kor, Daryl J.; Kleinman, Steve
Transfusion Clinique et Biologique. 26:354-356
Academic Journal
Pike, G N, Cumming, A M, Thachil, J, Hay, C R M, Bolton -Maggs , P H B & Burthem, J 2017, 'Evaluation of the use of rotational thromboelastometry in the assessment of FXI deficency', Haemophilia. https://doi.org/10.1111/hae.13136
Academic Journal
Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; Holder, GE; Cheetham, ME; Plagnol, V; Moore, AT; Raymond, FL; Matter, K; Balda, MS; Webster, AR; Black, G; Hall, G; Ingram, S; Gillespie, R; Manson, F; Sergouniotis, P; Inglehearn, C; Toomes, C; Ali, M; McKibbin, M; Poulter, J; Khan, K; Lord, E; Nemeth, A; Downes, S; Halford, S; Yu, J; Lise, S; Ponitkos, N; Michaelides, M; van Heyningen, V; Aitman, T; Alachkar, H; Ali, S; Allen, L; Allsup, D; Ambegaonkar, G; Anderson, J; Antrobus, R; Armstrong, R; Arumugakani, G; Ashford, S; Astle, W; Attwood, A; Austin, S; Bacchelli, C; Bakchoul, T; Bariana, TK; Baxendale, H; Bennett, D; Bethune, C; Bibi, S; Bitner-Glindzicz, M; Bleda, M; Boggard, H; Bolton-Maggs, P; Booth, C; Bradley, JR; Brady, A; Brown, M; Browning, M; Bryson, C; Burns, S; Calleja, P; Canham, N; Carmichael, J; Carss, K; Caulfield, M; Chalmers, E; Chandra, A; Chinnery, P; Chitre, M; Church, C; Clement, E; Clements-Brod, N; Clowes, V; Coghlan, G; Collins, P; Cooper, N; Creaser-Myers, A; DaCosta, R; Daugherty, L; Davies, S; Davis, J; De Vries, M; Deegan, P; Deevi, SVV; Deshpande, C; Devlin, L; Dewhurst, E; Doffinger, R; Dormand, N; Drewe, E; Edgar, D; Egner, W; Erber, WN; Erwood, M; Everington, T; Favier, R; Firth, H; Fletcher, D; Flinter, F; Fox, JC; Frary, A; Freson, K; Furie, B; Furnell, A; Gale, D; Gardham, A; Gattens, M; Ghali, N; Ghataorhe, PK; Ghurye, R; Gibbs, S; Gilmour, K; Gissen, P; Goddard, S; Gomez, K; Gordins, P; Gräf, S; Greene, D; Greenhalgh, A; Greinacher, A; Grigoriadou, S; Grozeva, D; Hackett, S; Hadinnapola, C; Hague, R; Haimel, M; Halmagyi, C; Hammerton, T; Hart, D; Hayman, G; Heemskerk, JWM; Henderson, R; Hensiek, A; Henskens, Y; Herwadkar, A; Holden, S; Holder, M; Holder, S; Hu, F; Huissoon, A; Humbert, M; Hurst, J; James, R; Jolles, S; Josifova, D; Kazmi, R; Keeling, D; Kelleher, P; Kelly, AM; Kennedy, F; Kiely, D; Kingston, N; Koziell, A; Krishnakumar, D; Kuijpers, TW; Kumararatne, D; Kurian, M; Laffan, MA; Lambert, MP; Allen, HL; Lawrie, A; Lear, S; Lees, M; Lentaigne, C; Liesner, R; Linger, R; Longhurst, H; Lorenzo, L; Machado, R; Mackenzie, R; MacLaren, R; Maher, E; Maimaris, J; Mangles, S; Manson, A; Mapeta, R; Markus, HS; Martin, J; Masati, L; Mathias, M; Matser, V; Maw, A; McDermott, E; McJannet, C; Meacham, S; Meehan, S; Megy, K; Mehta, S; Millar, CM; Moledina, S; Moore, A; Morrell, N; Mumford, A; Murng, S; Murphy, E; Nejentsev, S; Noorani, S; Nurden, P; Oksenhendler, E; Ouwehand, WH; Papadia, S; Park, S-M; Parker, A; Pasi, J; Patch, C; Paterson, J; Payne, J; Peacock, A; Peerlinck, K; Penkett, CJ; Pepke-Zaba, J; Perry, DJ; Pollock, V; Polwarth, G; Ponsford, M; Qasim, W; Quinti, I; Rankin, S; Rankin, J; Rehnstrom, K; Reid, E; Rhodes, CJ; Richards, M; Richardson, S; Richter, A; Roberts, I; Rondina, M; Rosser, E; Roughley, C; Rue-Albrecht, K; Samarghitean, C; Sanchis-Juan, A; Sandford, R; Santra, S; Sargur, R; Savic, S; Schulman, S; Schulze, H; Scott, R; Scully, M; Seneviratne, S; Sewell, C; Shamardina, O; Shipley, D; Simeoni, I; Sivapalaratnam, S; Smith, K; Sohal, A; Southgate, L; Staines, S; Staples, E; Stauss, H; Stein, P; Stephens, J; Stirrups, K; Stock, S; Suntharalingam, J; Tait, RC; Talks, K; Tan, Y; Thachil, J; Thaventhiran, J; Thomas, E; Thomas, M; Thompson, D; Thrasher, A; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Van Geet, C; Veltman, M; Vogt, J; von Ziegenweldt, J; Noordegraaf, AV; Wakeling, E; Wanjiku, I; Warner, TQ; Wassmer, E; Watkins, H; Webster, A; Welch, S; Westbury, S; Wharton, J; Whitehorn, D; Wilkins, M; Willcocks, L; Williamson, C; Woods, G; Wort, J; Yeatman, N; Yong, P; Young, T; Yu, P
UK Inherited Retinal Disease Consortium, NIHR BioResource Rare Diseases Consortium, NIHR BioResource Rare Diseases Consortium & NIHR Bioresource – Rare Diseases Consortium 2017, 'Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration', American journal of human genetics, vol. 100, no. 2, pp. 334-342. https://doi.org/10.1016/j.ajhg.2016.12.014
Arno, G, Carss, K J, Hull, S, Zihni, C, Robson, A G, Fiorentino, A, Hardcastle, A J, Holder, G E, Cheetham, M E, Plagnol, V, Moore, A T, Raymond, F L, Matter, K, Balda, M S, Webster, A R, Uk Inherited Retinal Disease Consortium & Black, G 2017, 'Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2016.12.014
Arno, G, Carss, K J, Hull, S, Zihni, C, Robson, A G, Fiorentino, A, Hardcastle, A J, Holder, G E, Cheetham, M E, Plagnol, V, Moore, A T, Raymond, F L, Matter, K, Balda, M S, Webster, A R, Uk Inherited Retinal Disease Consortium & Black, G 2017, 'Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2016.12.014
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; Penkett, Christopher J; Stirrups, Kathleen; Veltman, Marijke; Young, Tim; 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; Lambert, Michele P; Lentaigne, Claire; Liesner, Ri; Mangles, Sarah; Mathias, Mary; Millar, Carolyn M; Mumford, Andrew; Nurden, Paquita; Payne, Jeanette; Pasi, John; Perry, David J; Peerlinck, Kathelijne; Richards, Michael; Rondina, Matthew; Roughley, Catherine; Schulman, Sol; Schulze, Harald; Scully, Marie; Sivapalaratnam, Suthesh; Tait, R Campbell; Talks, Kate; Thachil, Jecko; Turro, Ernest; Toh, Cheng-Hock; Van Geet, Chris; De Vries, Minka; Warner, Timothy Q; Westbury, Sarah; Furnell, Abigail; Mapeta, Rutendo; Simeoni, Ilenia; Staines, Simon; Stephens, Jonathan; Whitehorn, Deborah; Watt, Christopher; Attwood, Antony; Daugherty, Louise; Deevi, Sri; Halmagyi, Csaba; Hu, Fengyuan; Matser, Vera; Meacham, Stuart; Megy, Karyn; Titterton, Catherine; Tuna, Salih; Yu, Ping; Von Ziegenweldt, Julie; Astle, William; Carss, Keren; Lango-Allen, Hana; Richardson, Sylvia; Calleja, Paul; Rankin, Stuart; Turek, Wojciech; Bryson, Christine; Anderson, Julie; McJannet, Coleen; Stock, Sophie; Wassmer, Evangeline; Sohal, Aman; Santra, Saikat; Vogt, Julie; Chitre, Manali; Krishnakumar, Deepa; Ambegaonkar, Gautum; Maw, Anna; Armstrong, Ruth; Park, Soo-Mi; Mehta, Sarju; Paterson, Joan; Carmichael, Jenny; Allen, Louise; Hensiek, Anke; Firth, Helen; Stein, Penelope; Deegan, Patrick; Doffinger, Rainer; Parker, Alasdair; Bitner-Glindzicz, Maria; Scott, Richard; Hurst, Jane; Rosser, Elisabeth; Lees, Melissa; Clement, Emma; Henderson, Robert; Thompson, Dorothy; Gardham, Alice; Gissen, Paul; Josifova, Dragana; Thomas, Ellen; Patch, Chris; Deshpande, Charu; Flinter, Frances; Holder, Muriel; Canham, Natalie; Wakeling, Emma; Holder, Susan; Ghali, Neeti; Brady, Angie; Clowes, Virginia; MacLaren, Robert; Webster, Andrew; Moore, Anthony; Arno, Gavin; Michaelides, Michel; Rankin, Julia; Kurian, Manju; Murphy, Elaine; Sanchis-Juan, Alba; Grozeva, Detelina; Reid, Evan; Woods, Geoff; Tischkowitz, Marc; Sandford, Richard; Ali, Sonia; Creaser-Myers, Amanda; Cookson, Victoria; DaCosta, Rosa; Dormand, Natalie; Ghataorhe, Pavandeep K; Greenhalgh, Alan; Huis In’t Veld, Anna; Kennedy, Fiona; Mackenzie Ross, Rob; Masati, Larahmie; Meehan, Sharon; Othman, Shokri; Pollock, Val; Polwarth, Gary; Rhodes, Christopher J; Rue-Albrecht, Kevin; Schotte, Gwen; Shipley, Debbie; Tan, Yvonne; Wanjiku, Ivy; Wort, John; Kuijpers, Taco; Thaventhiran, James; Lango Allen, Hana; Staples, Emily; Samarghitean, Crina; 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; 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; Sargur, Ravishankar; Savic, Sinisa; Seneviratne, Suranjith; Sewell, Carrock; Stauss, Hans; Thomas, Moira; Welch, Steve; Willcocks, Lisa; Yeatman, Nigel; Yong, Patrick
Hadinnapola, C, Bleda, M, Haimel, M, Screaton, N, Swift, A, Dorfmüller, P , Preston, S D, Southwood, M, Hernandez-Sanchez, J, Martin, J, Treacy, C, Yates, K, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P A, Gibbs, S, Girerd, B, Holden, S, Humbert, M, Kiely, D G, Lawrie, A, Machado, R, MacKenzie Ross, R, Moledina, S, Montani, D, Newnham, M, Peacock, A, Pepke-Zaba, J, Rayner-Matthews, P , Shamardina, O, Soubrier, F, Southgate, L, Suntharalingam, J, Toshner, M, Trembath, R, Noordegraaf, A V, Wilkins, M R, Wort, S J, Wharton, J, Gräf, S, Morrell, N W & NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH 2017, 'Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension', Circulation, vol. 136, no. 21, pp. 2022-2033. https://doi.org/10.1161/CIRCULATIONAHA.117.028351
Hadinnapola, C, Bleda, M, Haimel, M, Screaton, N, Swift, A, Dorfmüller,P , Preston, S D, Southwood, M, Hernandez-Sanchez, J, Martin, J, Treacy, C, Yates, K, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P A, Gibbs, S, Girerd, B, Holden, S, Humbert, M, Kiely, D G, Lawrie, A, Machado, R, MacKenzie Ross, R, Moledina, S, Montani, D, Newnham, M, Peacock, A, Pepke-Zaba, J, Rayner-Matthews, P , Shamardina, O, Soubrier, F, Southgate, L, Suntharalingam, J, Toshner, M, Trembath, R, Noordegraaf, A V, Wilkins, M R, Wort, S J, Wharton, J, Gräf, S, Morrell, N W 2017, ' Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension ', Circulation, vol. 136, no. 21, pp. 2022-2033 . https://doi.org/10.1161/CIRCULATIONAHA.117.028351
Hadinnapola, C, Bleda, M, Haimel, M, Screaton, N, Swift, A, Dorfmüller,
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; Cooper, Nichola; 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; 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; Fox, James C.; 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; 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; 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.; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Machado, Rajiv; Mackenzie, Rob; 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; 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 J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Rosser, Elisabeth; Roughley, Catherine; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stauss, Hans; Stein, Penelope; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; Tait, R. Campbell; 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; Webster, Andrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Carss, Keren J. ; Hull, Sarah ; Malka, Samantha ; Plagnol, Vincent ; Penkett, Christopher ; Rizzo, Roberta ; Wright, Genevieve ; Scott, Richard H. ; Brady, Angela F. ; Henderson, Robert H.H. ; MacLaren, Robert E. ; Thompson, Dorothy A. ; Moore, Anthony T. ; Webster, Andrew R. ; Raymond, F. Lucy
In The American Journal of Human Genetics 5 January 2017 100(1):75-90
Academic Journal
McSporran W; The Royal Marsden NHS Foundation Trust, London, UK.; Anand R; NHS Blood and Transplant, Birmingham, UK.; Bolton-Maggs P; North Middlesex University Hospital NHS Trust, London, UK.; Madgwick K; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; McLintock L; Scottish National Blood Transfusion Service, Edinburgh, UK.; Nwankiti K; Kings College Hospital NHS Foundation Trust, London, UK.
Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE
Academic Journal
E. Holm; T. C. Abshire; J. Bowen; M. T. Álvarez; P. Bolton Maggs; M. Carcao; A.B. Federici; J. C. Gill; S. Halimeh; C. Kempton; N. S. Key; P. Kouides; A. Lail; A. Landorph; F. Leebeek; M. Makris; P. Mannucci; E. P. Mauser Bunschoten; D. Nugent; L. A. Valentino; R. Winikoff; E. Berntorp
Blood Coagulation & Fibrinolysis. 26:383-388
Academic Journal
British journal of haematology. 191(5)
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