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Whole-genome sequencing of patients with rare diseases in a national health system.

E. Turro, W. Astle, K. Megy, S. Gräf, D. Greene, O. Shamardina, H. Allen, A. Sanchis-Juan, M. Frontini, C. Thys, J. Stephens, R. Mapeta, O. Burren, K. Downes, M. Haimel, S. Tuna, S. Deevi, T. Aitman, D. Bennett, P. Calleja, K. Carss, M. Caulfield, P. Chinnery, P. Dixon, D. Gale, R. James, A. Koziell, M. Laffan, A. Levine, E. Maher, H. Markus, J. Morales, N. Morrell, A. Mumford, E. Ormondroyd, S. Rankin, A. Rendon, S. Richardson, I. Roberts, N. Roy, M. Saleem, K. Smith, H. Stark, R. Tan, A. Themistocleous, A. Thrasher, H. Watkins, A. Webster, M. Wilkins, C. Williamson, J. Whitworth, S. Humphray, D. Bentley, S. Abbs, L. Abulhoul, J. Adlard, M. Ahmed, H. Alachkar, D. Allsup, J. Almeida-King, P. Ancliff, R. Antrobus, R. Armstrong, G. Arno, S. Ashford, A. Attwood, P. Aurora, C. Babbs, C. Bacchelli, T. Bakchoul, S. Banka, T. Bariana, J. Barwell, J. Batista, H. Baxendale, P. Beales, A. Bierzynska, T. Biss, M. Bitner-Glindzicz, G. Black, M. Bleda, I. Blesneac, D. Bockenhauer, H. Bogaard, C. Bourne, S. Boyce, J. Bradley, E. Bragin, G. Breen, P. Brennan, C. Brewer, M. Brown, A. Browning, M. Browning, R. Buchan, M. Buckland, T. Bueser, C. Diz, J. Burn, S. Burns, N. Burrows, C. Campbell, G. Carr-White, R. Casey, J. Chambers, J. Chambers, M. Chan, C. Cheah, F. Cheng, M. Chitre, M. Christian, C. Church, J. Clayton-Smith, M. Cleary, N. Brod, G. Coghlan, E. Colby, T. Cole, J. Collins, P. Collins, C. Colombo, C. Compton, R. Condliffe, S. Cook, H. Cook, N. Cooper, P. Corris, A. Furnell, F. Cunningham, N. Curry, A. Cutler, M. Daniels, M. Dattani, L. Daugherty, J. Davis, A. Soyza, T. Dent, C. Deshpande, E. Dewhurst, S. Douzgou, A. Drazyk, E. Drewe, D. Duarte, T. Dutt, J. Edgar, K. Edwards, W. Egner, M. Ekani, P. Elliott, W. Erber, M. Erwood, M. Estiu, D. Evans, G. Evans, T. Everington, M. Eyries, H. Fassihi, R. Favier, J. Findhammer, D. Fletcher, F. Flinter, R. Floto, T. Fowler, J. Fox, A. Frary, C. French, K. Freson, H. Gall, V. Ganesan, M. Gattens, C. Geoghegan, T. Gerighty, A. Gharavi, S. Ghio, H. Ghofrani, J. Gibbs, K. Gibson, K. Gilmour, B. Girerd, N. Gleadall, S. Goddard, D. Goldstein, K. Gomez, P. Gordins, D. Gosal, J. Graham, L. Grassi, L. Greenhalgh, A. Greinacher, P. Gresele, P. Griffiths, S. Grigoriadou, R. Grocock, D. Grozeva, M. Gurnell, S. Hackett, C. Hadinnapola, W. Hague, R. Hague, M. Hall, H. Hanson, E. Haque, K. Harkness, A. Harper, C. Harris, D. Hart, A. Hassan, G. Hayman, A. Henderson, A. Herwadkar, J. Hoffman, S. Holden, R. Horvath, H. Houlden, A. Houweling, L. Howard, F. Hu, G. Hudson, J. Hughes, A. Huissoon, M. Humbert, S. Hunter, M. Hurles, M. Irving, L. Izatt, S. Johnson, S. Jolles, J. Jolley, D. Josifova, N. Jurkute, T. Karten, J. Karten, M. Kasanicki, H. Kazkaz, R. Kazmi, P. Kelleher, A. Kelly, W. Kelsall, C. Kempster, D. Kiely, N. Kingston, R. Klima, N. Koelling, M. Kostadima, G. Kovacs, R. Kreuzhuber, T. Kuijpers, A. Kumar, D. Kumararatne, M. Kurian, F. Lalloo, M. Lambert, A. Lawrie, D. Layton, N. Lench, C. Lentaigne, T. Lester, R. Linger, H. Longhurst, L. Lorenzo, E. Louka, P. Lyons, R. Machado, R. Ross, B. Madan, J. Maimaris, S. Malka, S. Mangles, K. Marchbank, S. Marks, H. Marschall, A. Marshall, J. Martin, M. Mathias, E. Matthews, H. Maxwell, P. McAlinden, M. McCarthy, H. McKinney, A. McMahon, S. Meacham, A. Mead, I. Castello, S. Mehta, M. Michaelides, C. Millar, S. Mohammed, S. Moledina, D. Montani, A. Moore, M. Mozere, K. Muir, A. Nemeth, W. Newman, M. Newnham, S. Noorani, P. Nurden, J. O'Sullivan, S. Obaji, C. Odhams, S. Okoli, A. Olschewski, H. Olschewski, K. Ong, S. Oram, W. Ouwehand, C. Palles, S. Papadia, S. Park, D. Parry, S. Patel, J. Paterson, A. Peacock, S. Pearce, J. Peden, K. Peerlinck, C. Penkett, J. Pepke-Zaba, R. Petersen, C. Pilkington, K. Poole, R. Prathalingam, B. Psaila, A. Pyle, R. Quinton, S. Rahman, A. Rao, F. Raymond, P. Rayner-Matthews, C. Rees, T. Renton, C. Rhodes, A. Rice, A. Richter, L. Robert, A. Rogers, S. Rose, R. Ross-Russell, C. Roughley, D. Ruddy, O. Sadeghi-Alavijeh, N. Samani, C. Samarghitean, R. Sargur, R. Sarkany, S. Satchell, S. Savic, J. Sayer, G. Sayer, L. Scelsi, A. Schaefer, S. Schulman, R. Scott, M. Scully, C. Searle, W. Seeger, A. Sen, W. Sewell, D. Seyres, N. Shah, S. Shapiro, A. Shaw, P. Short, K. Sibson, L. Side, I. Simeoni, M. Simpson, M. Sims, S. Sivapalaratnam, D. Smedley, K. Smith, K. Snape, N. Soranzo, F. Soubrier, L. Southgate, O. Spasic-Boskovic, S. Staines, E. Staples, C. Steward, K. Stirrups, A. Stuckey, J. Suntharalingam, E. Swietlik, P. Syrris, R. Tait, K. Talks, K. Tate, J. Taylor, J. Taylor, J. Thaventhiran, E. Thomas, D. Thomas, M. Thomas, P. Thomas, K. Thomson, G. Threadgold, T. Tilly, M. Tischkowitz, C. Titterton, J. Todd, C. Toh, B. Tolhuis, I. Tomlinson, M. Toshner, M. Traylor, C. Treacy, P. Treadaway, R. Trembath, W. Turek, P. Twiss, T. Vale, C. Geet, N. van Zuydam, M. Vandekuilen, A. Vandersteen, M. Vazquez-Lopez, J. von Ziegenweidt, A. Vonk-Noordegraaf, A. Wagner, Q. Waisfisz, S. Walker, N. Walker, K. Walter, J. Ware, C. Watt, L. Wedderburn, W. Wei, S. Welch, J. Wessels, S. Westbury, J. Westwood, J. Wharton, D. Whitehorn, A. Wilkie, B. Wilson, E. Wong, N. Wood, Y. Wood, C. Woods, E. Woodward, S. Wort, A. Worth, M. Wright, K. Yates, P. Yong, T. Young, P. Yu, P. Yu-Wai-Man, и E. Zlamalova. Nat., 583 (7814): 96-102 (2020)

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Другие публикации лиц с тем же именем

Whole-genome sequencing of patients with rare diseases in a national health system.E. Turro, W. Astle, K. Megy, S. Gräf, D. Greene, O. Shamardina, H. Allen, A. Sanchis-Juan, M. Frontini, C. Thys и 439 other автор(ы). Nat., 583 (7814): 96-102 (2020)AMLP-Conv, a 3D Axial Long-range Interaction Multilayer Perceptron for CNNs.S. Bonheur, M. Pienn, H. Olschewski, H. Bischof, и M. Urschler. MLMI@MICCAI, том 13583 из Lecture Notes in Computer Science, стр. 328-337. Springer, (2022)Matwo-CapsNet: A Multi-label Semantic Segmentation Capsules Network.S. Bonheur, D. Stern, C. Payer, M. Pienn, H. Olschewski, и M. Urschler. MICCAI (5), том 11768 из Lecture Notes in Computer Science, стр. 664-672. Springer, (2019)OnlyCaps-Net, a Capsule only Based Neural Network for 2D and 3D Semantic Segmentation.S. Bonheur, F. Thaler, M. Pienn, H. Olschewski, H. Bischof, и M. Urschler. MICCAI (5), том 13435 из Lecture Notes in Computer Science, стр. 340-349. Springer, (2022)Diagnosis, Assessment, and Treatment of Non-Pulmonary Arterial Hypertension Pulmonary HypertensionM. Hoeper, J. Barbera, R. Channick, P. Hassoun, I. Lang, A. Manes, F. Martinez, R. Naeije, H. Olschewski, J. Pepke-Zaba и 5 other автор(ы). J Am Coll Cardiol, 54 (1_Suppl_S): S85-96 (2009)Increased Tortuosity of Pulmonary Arteries in Patients with Pulmonary Hypertension in the Arteries.M. Pienn, C. Payer, A. Olschewski, H. Olschewski, M. Urschler, и Z. Bálint. MIUA, стр. 86-91. BMVA, (2015)Counter-clockwise vortical blood flow in the main pulmonary artery in a patient with patent ductus arteriosus with pulmonary arterial hypertension: a cardiac magnetic resonance imaging case report.G. Reiter, U. Reiter, G. Kovacs, G. Adelsmayr, A. Greiser, A. Stalder, H. Olschewski, и M. Fuchsjäger. BMC Medical Imaging, (2016)Automated integer programming based separation of arteries and veins from thoracic CT images.C. Payer, M. Pienn, Z. Bálint, A. Shekhovtsov, E. Talakic, E. Nagy, A. Olschewski, H. Olschewski, и M. Urschler. Medical Image Anal., (2016)Automatic Artery-Vein Separation from Thoracic CT Images Using Integer Programming.C. Payer, M. Pienn, Z. Bálint, A. Olschewski, H. Olschewski, и M. Urschler. MICCAI (2), том 9350 из Lecture Notes in Computer Science, стр. 36-43. Springer, (2015)Pulmonary Lobe Segmentation in CT Images using Alpha-Expansion.N. Giuliani, C. Payer, M. Pienn, H. Olschewski, и M. Urschler. VISIGRAPP (4: VISAPP), стр. 387-394. SciTePress, (2018)

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