학술논문
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'학술논문'
에서 검색결과 201건 | 목록
1~20
Academic Journal
Iverson, Ryan; Taljaard, Monica; Geraghty, Michael T.; Pugliese, Michael; Tingley, Kylie; Coyle, Doug; Kronick, Jonathan B.; Wilson, Kumanan; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Butcher, Nancy J.; Chan, Alicia K. J.; Dyack, Sarah; Goobie, Sharan; Greenberg, Cheryl R.; Jain-Ghai, Shailly; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Mitchell, John J.; Nagy, Laura; Offringa, Martin; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Tapscott, Kendra; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vandersteen, Anthony; Walia, Jagdeep S.; Wilson, Brenda J.; Yu, Andrea C.; Potter, Beth K.; Chakraborty, Pranesh
BMC Pediatrics. 24(1)
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
Arts, Rob J.W. ; Bijker, Else M. ; Bruno, Mariolina ; Hobo, Willemijn ; Hoppenreijs, Esther ; de Jonge, Marien I. ; van Laarhoven, Arjan ; van der Molen, Renate ; Oud, Manon ; Schatorje, Ellen J.H. ; Smeets, Ruben ; Sprenkeler, Evelien G.G. ; Stol, Kim ; Verhagen, Lilly M. ; Zonneveld-Huijssoon, Evelien ; Vorsteveld, Emil E. ; Van der Made, Caspar I. ; Smeekens, Sanne P. ; Schuurs-Hoeijmakers, Janneke H. ; Astuti, Galuh ; Diepstra, Heleen ; Gilissen, Christian ; Hoenselaar, Evelien ; Janssen, Alice ; van Roozendaal, Kees ; Engelen, Jettie Sikkema-van ; Steyaert, Wouter ; Weiss, Marjan M. ; Yntema, Helger G. ; Mantere, Tuomo ; AlZahrani, Mofareh S. ; van Aerde, Koen ; Derfalvi, Beata ; Faqeih, Eissa Ali ; Henriet, Stefanie S.V. ; van Hoof, Elise ; Idressi, Eman ; Issekutz, Thomas B. ; Jongmans, Marjolijn C.J. ; Keski-Filppula, Riikka ; Krapels, Ingrid ; te Loo, Maroeska ; Mulders-Manders, Catharina M. ; ten Oever, Jaap ; Potjewijd, Judith ; Sarhan, Nora Tarig ; Slot, Marjan C. ; Terhal, Paulien A. ; Thijs, Herman ; Vandersteen, Anthony ; Vanhoutte, Els K. ; van de Veerdonk, Frank ; van Well, Gijs ; Netea, Mihai G. ; Simons, Annet ; Hoischen, Alexander
In Clinical Immunology November 2024 268
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
Murad, Andrea M.; Hill, Hannah L.; Wang, Yu; Ghannam, Michael; Yang, Min-Lee; Pugh, Norma L.; Asch, Federico M.; Hornsby, Whitney; Driscoll, Anisa; McNamara, Jennifer; Willer, Cristen J.; Regalado, Ellen S.; Milewicz, Dianna M.; Eagle, Kim A.; Ganesh, Santhi K.; Kroner, Barbara; Devereux, Richard; Ravekes, William; Pyeritz, Reed E.; LeMaire, Scott A.; Maslen, Cheryl L.; Shohet, Ralph; Habashi, Jennifer; Backer, Julie d.; Boileau, Catherine; Jondeau, Guillaume; Braverman, Alan; Evangalista, Arturo; Morris, Shaine A.; Ouzounian, Maral; Yetman, Anji; Ades, Lesley; Arbustini, Eloisa; Alvarez, Nanette; Child, Anne H.; Carlberg, Bo; el-Hamamsy, Ismail; Chitayat, David; Paepe, Anne d.; Fernandez, Bridget; Grima, Josephine; Groenink, Maarten; Horne, Gabrielle; Jeremy, Richmond; von Kodolitsch, Yskert; Lacro, Ronald; Levin, Alex V.; Liang, David; Maumenee, Irene; McConnell, Vivienne; Moran, Rocio; Morisaki, Hiroko; Morisaki, Takayuki; Pitcher, Alex; Poirier, Nancy; Ramirez, Francesco; Robinson, Peter; Reinhardt, Dieter; Rybczynski, Meike; Sandor, George; Sakai, Lynn; Sallee, Denver; Shalhub, Sherene; Singh, Michael N.; Callewaert, Bert; Hofmann Bowman, Marion A. .; Labombarda, Fabien; Faivre, Laurence; Bouleti, Claire; Renard, Marjolijn; Human, Derek; Szabolcs, Zoltan; Crean, Andrew Michael; Bavaria, Joseph; Psychogios, Apostolos; Kalahasti, Vidyasagar; Giampietro, Philip F.; Muiño-Mosquera, Laura; Teixido-Tura, Gisela; Milleron, Olivier; Lindsay, Mark Evan; Bowen, Juan Manuel; Ge, Shuping; Caffarelli, Anthony David; Roos-Hesselink, J. W.; Sheppard, Mary B.; Choong, Andrew; Neptune, Enid R.; Zhou, Zhou; Pini, Alessandro; Melissano, Germano; Mariucci, Elisabetta M.; Cervi, Elena; Russo, Melissa L.; Bernatchez, Pascal-Nicolas; Esfandiarei, Mitra; Marcadier, Julien; Tierney, Seda; Wang, Jessica; Harris, Kevin Michael; MacKay, Sara B.; Rideout, Andrea L.; Parkash, Sandhya; Vandersteen, Anthony Martin; Hanna, Nadine; Goff, Carine L.; Pellenc, Quentin; Sips, Patrick; Damrauer, Scott Michael; Starr, Lois; Yang, Bo; Shah, Jay B.; Tretter, Justin T.; Forghani, Irman; Cox, Kelly
American Journal of Medical Genetics Part A. 188:1448-1456
Academic Journal
Verstraeten, Aline; Perik, Melanie H.A.M.; Baranowska, Anna A.; Meester, Josephina A.N.; Van Den Heuvel, Lotte; Bastianen, Jarl; Kempers, Marlies; Krapels, Ingrid P.C.; Maas, Angela; Rideout, Andrea; Vandersteen, Anthony; Sobey, Glenda; Johnson, Diana; Fransen, Erik; Ghali, Neeti; Webb, Tom; Al-Hussaini, Abtehale; de Leeuw, Peter; Delmotte, Philippe; Lopez-Sublet, Marilucy; Pappaccogli, Marco; Sprynger, Muriel; Toubiana, Laurent; Van Laer, Lut; Van Dijk, Fleur S.; Vikkula, Miikka; Samani, Nilesh J.; Persu, Alexandre; Adlam, David; Loeys, Bart; Beauloye, Christophe; Chenu, Patrick; Hammer, Frank; Goffette, Pierre; Astarci, Parla; Peeters, André; Verhelst, Robert; Van der Niepen, Patricia; Van Tussenbroek, Frank; De Backer, Tine; Gevaert, Sofie; Hemelsoet, Dimitri; Defreyne, Luc; Heuten, Hilde; Yperzeele, Laetitia; Van der Zijden, Thijs; Lengelé, Jean-Philippe; Krzesinski, Jean-Marie; Verhamme, Peter; Vanassche, Thomas; Scoppettuolo, Pasquale; Wautrecht, Jean-Claude; Jelaković, Bojan; Dika, Zivka; Maria Bruno, Rosa; Taddei, Stefano; Romanini, Caterina; Petrucci, Ilaria; Rabbia, Franco; Di Monaco, Silvia; Paolo Rossi, Gian; Lerco, Silvia; Minuz, Pietro; Mansueto, Giancarlo; De Marchi, Sergio; Marcon, Denise; Kroon, Bram; Spiering, Wilko; van den Born, Bert-Jan; Poch, Esteban; Montagud-Marrahi, Enrique; Molina, Alicia; Guillen, Elena; Burrel, Marta; Wuerzner, Gregor; Mazzolai, Lucia; Buso, Giacomo; European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI), [missing]
Circulation, 142, 10, pp. 1021-1024
Circulation, Vol. 142, no. 10, p. 1021-1024 (2020)
Circulation
CIRCULATION
Circulation, Vol. 142, no. 10, p. 1021-1024 (2020)
Circulation
CIRCULATION
Academic Journal
Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick; Haseeb, Abdul; Mcwalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria; Schnur, Rhonda; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphné; Nambot, Sophie; Moutton, Sébastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christèle; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth; Masser-Frye, Diane; Bird, Lynne; Lindstrom, Kristin; Ramsey, Keri; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica; Klein Wassink-Ruiter, Jolien; Bijlsma, Emilia; Hoffer, Mariëtte; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill; Machol, Keren; Scott, Daryl; Bacino, Carlos; Wang, Xia; Clark, Gary; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys; Akay, Ela; Chang, Richard; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogné, Benjamin; Kuechler, Alma; Piton, Amélie; Klee, Eric; Lefebvre, Véronique; Clark, Karl; Depienne, Christel
Genetics in Medicine, vol 22, iss 3
Academic Journal
Green, Claire ; Ghali, Neeti ; Akilapa, Rhoda ; Angwin, Chloe ; Baker, Duncan ; Bartlett, Marion ; Bowen, Jessica ; Brady, Angela F. ; Brock, Joanna ; Chamberlain, Erin ; Cheema, Harveer ; McConnell, Vivienne ; Crookes, Renarta ; Kazkaz, Hanadi ; Johnson, Diana ; Pope, F. Michael ; Vandersteen, Anthony ; Sobey, Glenda ; van Dijk, Fleur S.
In Genetics in Medicine October 2020 22(10):1576-1582
Academic Journal
Karoulias, Stylianos Z. ; Beyens, Aude ; Balic, Zerina ; Symoens, Sofie ; Vandersteen, Anthony ; Rideout, Andrea L. ; Dickinson, John ; Callewaert, Bert ; Hubmacher, Dirk
In Matrix Biology June 2020 88:1-18
Academic Journal
Duong, June ; Rideout, Andrea ; MacKay, Sara ; Beis, Jill ; Parkash, Sandhya ; Schwarze, Ulrike ; Horne, S. Gabrielle ; Vandersteen, Anthony
In European Journal of Medical Genetics February 2020 63(2)
Academic Journal
Ayoub, Sandy; Ghali, Neeti; Angwin, Chloe; Baker, Duncan; Baffini, Stella; Brady, Angela F; Giovannucci Uzielli, Maria Luisa; Giunta, Cecilia; Johnson, Diana S; Kosho, Tomoki; Neas, Katherine; Pope, F Michael; Rutsch, Frank; Scarselli, Gloria; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S
American Journal of Medical Genetics Part A. 182:994-1007
Academic Journal
Ghali, Neeti ; Baker, Duncan ; Brady, Angela F. ; Burrows, Nigel ; Cervi, Elena ; Cilliers, Deirdre ; Frank, Michael ; Germain, Dominique P. ; Hulmes, David J.S. ; Jacquemont, Marie-line ; Kannu, Peter ; Lefroy, Henrietta ; Legrand, Anne ; Pope, F. Michael ; Robertson, Lisa ; Vandersteen, Anthony ; von Klemperer, Kate ; Warburton, Renarta ; Whiteford, Margo ; van Dijk, Fleur S.
In Genetics in Medicine September 2019 21(9):2081-2091
Academic Journal
Giunta, Cecilia ; Baumann, Matthias ; Fauth, Christine ; Lindert, Uschi ; Abdalla, Ebtesam M. ; Brady, Angela F. ; Collins, James ; Dastgir, Jahannaz ; Donkervoort, Sandra ; Ghali, Neeti ; Johnson, Diana S. ; Kariminejad, Ariana ; Koch, Johannes ; Kraenzlin, Marius ; Lahiri, Nayana ; Lozic, Bernarda ; Manzur, Adnan Y. ; Morton, Jenny E.V. ; Pilch, Jacek ; Pollitt, Rebecca C. ; Schreiber, Gudrun ; Shannon, Nora L. ; Sobey, Glenda ; Vandersteen, Anthony ; van Dijk, Fleur S. ; Witsch-Baumgartner, Martina ; Zschocke, Johannes ; Pope, F. Michael ; Bönnemann, Carsten G. ; Rohrbach, Marianne
In Genetics in Medicine January 2018 20(1):42-54
Academic Journal
Malfait, Fransiska; Francomano, Clair; Byers, Peter; Belmont, John; Berglund, Britta; Black, James; Bloom, Lara; Bowen, Jessica M.; Brady, Angela F.; Burrows, Nigel P.; Castori, Marco; Cohen, Helen; COLOMBI, Marina; Demirdas, Serwet; De Backer, Julie; De Paepe, Anne; Fournel Gigleux, Sylvie; Frank, Michael; Ghali, Neeti; Giunta, Cecilia; Grahame, Rodney; Hakim, Alan; Jeunemaitre, Xavier; Johnson, Diana; Juul Kristensen, Birgit; Kapferer Seebacher, Ines; Kazkaz, Hanadi; Kosho, Tomoki; Lavallee, Mark E.; Levy, Howard; Mendoza Londono, Roberto; Pepin, Melanie; Pope, F. Michael; Reinstein, Eyal; Robert, Leema; Rohrbach, Marianne; Sanders, Lynn; Sobey, Glenda J.; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Wheeldon, Nigel; Zschocke, Johannes; Tinkle, Brad
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 175, 1, pp. 8-26
Malfait, F, Francomano, C, Byers, P H, Belmont, J, Berglund, B, Black, J, Bloom, L, Bowen, J M, Brady, A F, Burrows, N P, Castori, M, Cohen, H, Colombi, M, Demirdas, S, De Backer, J, De Paepe, A, Fournel-Gigleux, S, Frank, M, Ghali, N, Giunta, C, Grahame, R, Hakim, A, Jeunemaitre, X, Johnson, D, Juul-Kristensen, B, Kapferer-Seebacher, I, Kazkaz, H, Kosho, T, Lavallee, M E, Levy, H, Mendoza-Londono, R, Pepin, M, Pope, F M, Reinstein, E, Robert, L, Rohrbach, M, Sanders, L, Sobey, G J, Van Damme, T,Vandersteen , A, van Mourik, C, Voermans, N, Wheeldon, N, Zschocke, J & Tinkle, B 2017, ' The 2017 international classification of the Ehlers-Danlos syndromes ', American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, vol. 175, no. 1, pp. 8-26 . https://doi.org/10.1002/ajmg.c.31552
Malfait, F, Francomano, C, Byers, P H, Belmont, J, Berglund, B, Black, J, Bloom, L, Bowen, J M, Brady, A F, Burrows, N P, Castori, M, Cohen, H, Colombi, M, Demirdas, S, De Backer, J, De Paepe, A, Fournel-Gigleux, S, Frank, M, Ghali, N, Giunta, C, Grahame, R, Hakim, A, Jeunemaitre, X, Johnson, D, Juul-Kristensen, B, Kapferer-Seebacher, I, Kazkaz, H, Kosho, T, Lavallee, M E, Levy, H, Mendoza-Londono, R, Pepin, M, Pope, F M, Reinstein, E, Robert, L, Rohrbach, M, Sanders, L, Sobey, G J, Van Damme, T,
Academic Journal
Brady, Angela F; Demirdas, Serwet; Fournel-Gigleux, Sylvie; Ghali, Neeti; Giunta, Cecilia; Kapferer-Seebacher, Ines; Kosho, Tomoki; Mendoza-Londono, Roberto; Pope, Michael F; Rohrbach, Marianne; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Zschocke, Johannes; Malfait, Fransiska
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 175, 1, pp. 70-115
Academic Journal
Thaventhiran, James E.D.; Lango Allen, Hana; Burren, Oliver S.; Rae, William; Greene, Daniel; Staples, Emily; Zhang, Zinan; Farmery, James H.R.; Simeoni, Ilenia; Rivers, Elizabeth; Maimaris, Jesmeen; Penkett, Christopher J.; Stephens, Jonathan; Deevi, Sri V.V.; Sanchis-Juan, Alba; Gleadall, Nicholas S.; Thomas, Moira J.; Sargur, Ravishankar B.; Gordins, Pavels; Baxendale, Helen E.; Brown, Matthew; Tuijnenburg, Paul; Worth, Austen; Hanson, Steven; Linger, Rachel J.; Buckland, Matthew S.; Rayner-Matthews, Paula J.; Gilmour, Kimberly C.; Samarghitean, Crina; Seneviratne, Suranjith L.; Sansom, David M.; Lynch, Andy G.; Megy, Karyn; Ellinghaus, Eva; Ellinghaus, David; Jorgensen, Silje F.; Karlsen, Tom H.; Stirrups, Kathleen E.; Cutler, Antony J.; Kumararatne, Dinakantha S.; Chandra, Anita; Edgar, J. David M.; Herwadkar, Archana; Cooper, Nichola; Grigoriadou, Sofia; Huissoon, Aarnoud P.; Goddard, Sarah; Jolles, Stephen; Schuetz, Catharina; Boschann, Felix; Abbs, Stephen; Adhya, Zoe; Adlard, Julian; Afzal, Maryam; Ahmed, Irshad; Ahmed, Munaza; Ahmed, Saeed; Aitman, Timothy J.; Alachkar, Hana; Alamelu, Jayanthi; Alikhan, Raza; Allen, Carl E.; Allen, Louise; Allsup, David J.; Alvi, Arif; Ambegaonkar, Gautam; Anantharachagan, Ariharan; Ancliff, Philip; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Arumugakani, Gururaj; Arya, Rita; Ashford, Sofie; Astle, William J.; Attwood, Anthony; Austin, Steve; Aydinok, Yesim; Ayub, Waqar; Babbs, Christian; Bacchelli, Chiara; Baglin, Trevor; Bakchoul, Tamam; Bariana, Tadbir K.; Barratt, Jonathan; Barwell, Julian; Baski, John; Bates, Rachel W.; Batista, Joana; Baynam, Gareth; Bennett, David L.; Bethune, Claire; Bhatnagar, Neha; Bibi, Shahnaz; Bierzynska, Agnieszka; Biss, Tina; Bitner-Glindzicz, Maria A.K.; Bleda, Marta; Blesneac, Iulia; Boardman, Barbara; Boddana, Preetham; Bogaard, Harm J.; Booth, Claire; Boyce, Sara; Bradley, John R.; Brady, Angela; Breen, Gerome; Brennan, Paul; Brewer, Carole; Briley, Annette; Brown, Richard; Browning, Michael J.; Brownlie, Mary; Bryson, Christine J.; Buchan, Rachel J.; Buck, Jackie; Bueser, Teofila; Diz, Carmen Bugarin; Burns, Siobhan O.; Calleja, Paul; Carmichael, Jenny; Carr-White, Gerald; Carss, Keren J.; Casey, Ruth; Chalmers, Elizabeth; Chambers, Jenny; Chambers, John; Chan, Melanie M.Y.; Chan, Melissa V.; Cheng, Floria; Chinn, Ivan K.; Chinnery, Patrick F.; Chitre, Manali; Chong, Sam; Christian, Martin T.; Church, Colin; Clement, Emma M.; Brod, Naomi Clements; Clifford, Hayley; Clowes, Virginia E.; Coghlan, Gerry; Colby, Elizabeth; Cole, Trevor R.P.; Collins, Janine H.; Collins, Peter W.; Condliffe, Robin; Cook, H. Terence; Cook, Stuart; Cookson, Victoria; Corris, Paul A.; Creaser-Myers, Amanda; Crisp-Hihn, Abigail; Curry, Nicola S.; Da Costa, Rosa; Danesino, Cesare; Daniels, Matthew J.; Darby, Damaris; Daugherty, Louise C.; Davies, E. G.; Davies, Sophie; Davis, John; de Bree, Godelieve J.; Deacock, Sarah; Deegan, Patrick B.; Dempster, John; Dent, Timothy; Deshpande, Charu; Devlin, Lisa A.; Dewhurst, Eleanor F.; Dixit, Anand K.; Dixon, Peter H.; Doffinger, Rainer; Dolling, Helen; Dormand, Natalie; Downes, Kate; Drazyk, Anna M.; Drewe, Elizabeth; Duarte, Daniel; Dutt, Tina; Edwards, Karen E.; Egner, William; Ekani, Melanie N.; El-Shanawany, Tariq; Elkhalifa, Shuayb; Elston, Tony; Emmerson, Ingrid; Erber, Wendy N.; Erwood, Marie; Estiu, Maria C.; Evans, Dafydd Gareth; Evans, Gillian; Everington, Tamara; Eyries, Mélanie; Favier, Remi; Firth, Helen V.; Fitzpatrick, Maggie M.; Fletcher, Debra; Flinter, Frances A.; Fox, James C.; Frary, Amy J.; French, Courtney E.; Freson, Kathleen; Frontini, Mattia; Furie, Bruce; Gale, Daniel P.; Gall, Henning J.; Gardham, Alice; Gaspar, H. Bobby; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghio, Stefano; Ghofrani, Hossein Ardeschir; Ghurye, Rohit; Gibbs, J. 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Nature
Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D J, Lotchkova, V, Schiffels, S, Hendricks, A, Danecek, P, Li, R, Floyd, J A B, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N, Durbin, R, Soranzo, N, Davey Smith, G, Kemp, J, Northstone, K, Paternoster, L, Shihab, H, Shin, S-Y, St Pourcain, B & Gaunt, T & Ring, S 2015, 'The UK10K project identifies rare variants in health and disease', Nature, vol. 526, no. 7571, pp. 82-90. https://doi.org/10.1038/nature14962
Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D, Iotchkova, V, Schiffels, S, Hendricks, A E, Danecek, P, Li, R, Floyd, J, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N J, Durbin, R, Soranzo, N, Bala, S, Clapham, P, Coates, G, Cox, T, Daly, A, Danecek, P, Du, Y, Durbin, R, Edkins, S, Ellis, P, Flicek, P, Guo, X, Guo, X, Huang, L, Jackson, D K, Joyce, C, Keane, T, Kolb-Kokocinski, A, Langford, C, Li, Y, Liang, J, Lin, H, Liu, R, Maslen, J, McCarthy, S, Muddyman, D, Quail, M A, Stalker, J, Sun, J, Tian, J, Wang, G, Wang, J, Wang, Y, Wong, K, Zhang, P, Barroso, I, Birney, E, Boustred, C, Chen, L, Clement, G, Cocca, M, Danecek, P, Smith, G D, Day, I N M, Day-Williams, A, Down, T, Dunham, I, Durbin, R, Evans, D M, Gaunt, T R, Geihs, M, Greenwood, C M T, Hart, D, Hendricks, A E, Howie, B, Huang, J, Hubbard, T, Hysi, P, Iotchkova, V, Jamshidi, Y, Karczewski, K J, Kemp, J P, Lachance, G, Lawson, D, Lek, M, Lopes, M, MacArthur, D G, Marchini, J, Mangino, M, Mathieson, I, McCarthy, S, Memari, Y, Metrustry, S, Min, J L, Moayyeri, A, Muddyman, D, Northstone, K, Panoutsopoulou, K, Paternoster, L, Perry, J R B, Quaye, L, Richards, J B, Ring, S, Ritchie, G R S, Schiffels, S, Shihab, H A, Shin, S-Y, Small, K S, Artigas, M S, Soranzo, N, Southam, L, Spector, T D, St Pourcain, B, Surdulescu, G, Tachmazidou, I, Timpson, N J, Tobin, M D, Valdes, A M, Visscher, P M, Wain, L V, Walter, K, Ward, K, Wilson, S G, Wong, K, Yang, J, Zeggini, E, Zhang, F, Zheng, H-F, Anney, R, Ayub, M, Barrett, J C, Blackwood, D, Bolton, P F, Breen, G, Collier, D A, Craddock, N, Crooks, L, Curran, S, Curtis, D, Durbin, R, Gallagher, L, Geschwind, D, Gurling, H, Holmans, P, Lee, I, Lonnqvist, J, McCarthy, S, McGuffin, P, McIntosh, A M, McKechanie, A G, McQuillin, A, Morris, J, Muddyman, D, O'Donovan, M C, Owen, M J, Palotie, A, Parr, J R, Paunio, T, Pietilainen, O, Rehnstrom, K, Sharp, S I, Skuse, D, St Clair, D, Suvisaari, J, Walters, J T R, Williams, H J, Barroso, I, Bochukova, E, Bounds, R, Dominiczak, A, Durbin, R, Farooqi, I S, Hendricks, A E, Keogh, J, Marenne, G L, McCarthy, S, Morris, A, Muddyman, D, O'Rahilly, S, Porteous, D J, Smith, B H, Tachmazidou, I, Wheeler, E, Zeggini, E, Al Turki, S, Anderson, C A, Antony, D, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Calissano, M, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Durbin, R, Fitzpatrick, D R, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Grozeva, D, Humphries, S E, Hurles, M E, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Parker, V, Payne, F, Plagnol, V, Raymond, F L, Roberts, N, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R K, Serra, E, Spasic-Boskovic, O, Stevens, E, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Williamson, K A, Wilson, C, Whyte, T, Ciampi, A, Greenwood, C M T, Hendricks, A E, Li, R, Metrustry, S, Oualkacha, K, Tachmazidou, I, Xu, C, Zeggini, E, Bobrow, M, Bolton, P F, Durbin, R, Fitzpatrick, D R, Griffin, H, Hurles, M E, Kaye, J, Kennedy, K, Kent, A, Muddyman, D, Muntoni, F, Raymond, F L, Semple, R K, Smee, C, Spector, T D, Timpson, N J, Charlton, R, Ekong, R, Futema, M, Humphries, S E, Khawaja, F, Lopes, L R, Migone, N, Payne, S J, Plagnol, V, Pollitt, R C, Povey, S, Ridout, C K, Robinson, R L, Scott, R H, Shaw, A, Syrris, P, Taylor, R,Vandersteen , A M, Barrett, J C, Barroso, I, Smith, G D, Durbin, R, Farooqi, I S, Fitzpatrick, D R, Hurles, M E, Kaye, J, Kennedy, K, Langford, C, McCarthy, S, Muddyman, D, Owen, M J, Palotie, A, Richards, J B, Soranzo, N, Spector, T D, Stalker, J, Timpson, N J, Zeggini, E, Amuzu, A, Casas, J P, Chambers, J C, Cocca, M, Dedoussis, G, Gambaro, G, Gasparini, P, Gaunt, T R, Huang, J, Iotchkova, V, Isaacs, A, Johnson, J, Kleber, M E, Kooner, J S, Langenberg, C, Luan, J, Malerba, G, Maerz, W, Matchan, A, Min, J L, Morris, R, Nordestgaard, B, Ring, S, Scott, R A, Soranzo, N, Southam, L, Timpson, N J, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, van Duijn, C M, van Leeuwen, E M, Varbo, A, Whincup, P, Zaza, G, Zeggini, E, Zhang, W & Benn, M 2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962
Perry, J R B, Brent Richards, J, Clement, G, Hart, D, Hysi, P, Metrustry, S, Hubbard, T, Lachance, G & Small, K S & Breen, G 2015, ' The UK10K project identifies rare variants in health and disease ', NATURE, vol. 526, pp. 82-90 . https://doi.org/10.1038/nature14962
2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962
Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D J, Lotchkova, V, Schiffels, S, Hendricks, A, Danecek, P, Li, R, Floyd, J A B, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N, Durbin, R, Soranzo, N, Davey Smith, G, Kemp, J, Northstone, K, Paternoster, L, Shihab, H, Shin, S-Y, St Pourcain, B & Gaunt, T & Ring, S 2015, 'The UK10K project identifies rare variants in health and disease', Nature, vol. 526, no. 7571, pp. 82-90. https://doi.org/10.1038/nature14962
Walter, K, Min, J L, Huang, J, Crooks, L, Memari, Y, McCarthy, S, Perry, J R B, Xu, C, Futema, M, Lawson, D, Iotchkova, V, Schiffels, S, Hendricks, A E, Danecek, P, Li, R, Floyd, J, Wain, L V, Barroso, I, Humphries, S E, Hurles, M E, Zeggini, E, Barrett, J C, Plagnol, V, Richards, J B, Greenwood, C M T, Timpson, N J, Durbin, R, Soranzo, N, Bala, S, Clapham, P, Coates, G, Cox, T, Daly, A, Danecek, P, Du, Y, Durbin, R, Edkins, S, Ellis, P, Flicek, P, Guo, X, Guo, X, Huang, L, Jackson, D K, Joyce, C, Keane, T, Kolb-Kokocinski, A, Langford, C, Li, Y, Liang, J, Lin, H, Liu, R, Maslen, J, McCarthy, S, Muddyman, D, Quail, M A, Stalker, J, Sun, J, Tian, J, Wang, G, Wang, J, Wang, Y, Wong, K, Zhang, P, Barroso, I, Birney, E, Boustred, C, Chen, L, Clement, G, Cocca, M, Danecek, P, Smith, G D, Day, I N M, Day-Williams, A, Down, T, Dunham, I, Durbin, R, Evans, D M, Gaunt, T R, Geihs, M, Greenwood, C M T, Hart, D, Hendricks, A E, Howie, B, Huang, J, Hubbard, T, Hysi, P, Iotchkova, V, Jamshidi, Y, Karczewski, K J, Kemp, J P, Lachance, G, Lawson, D, Lek, M, Lopes, M, MacArthur, D G, Marchini, J, Mangino, M, Mathieson, I, McCarthy, S, Memari, Y, Metrustry, S, Min, J L, Moayyeri, A, Muddyman, D, Northstone, K, Panoutsopoulou, K, Paternoster, L, Perry, J R B, Quaye, L, Richards, J B, Ring, S, Ritchie, G R S, Schiffels, S, Shihab, H A, Shin, S-Y, Small, K S, Artigas, M S, Soranzo, N, Southam, L, Spector, T D, St Pourcain, B, Surdulescu, G, Tachmazidou, I, Timpson, N J, Tobin, M D, Valdes, A M, Visscher, P M, Wain, L V, Walter, K, Ward, K, Wilson, S G, Wong, K, Yang, J, Zeggini, E, Zhang, F, Zheng, H-F, Anney, R, Ayub, M, Barrett, J C, Blackwood, D, Bolton, P F, Breen, G, Collier, D A, Craddock, N, Crooks, L, Curran, S, Curtis, D, Durbin, R, Gallagher, L, Geschwind, D, Gurling, H, Holmans, P, Lee, I, Lonnqvist, J, McCarthy, S, McGuffin, P, McIntosh, A M, McKechanie, A G, McQuillin, A, Morris, J, Muddyman, D, O'Donovan, M C, Owen, M J, Palotie, A, Parr, J R, Paunio, T, Pietilainen, O, Rehnstrom, K, Sharp, S I, Skuse, D, St Clair, D, Suvisaari, J, Walters, J T R, Williams, H J, Barroso, I, Bochukova, E, Bounds, R, Dominiczak, A, Durbin, R, Farooqi, I S, Hendricks, A E, Keogh, J, Marenne, G L, McCarthy, S, Morris, A, Muddyman, D, O'Rahilly, S, Porteous, D J, Smith, B H, Tachmazidou, I, Wheeler, E, Zeggini, E, Al Turki, S, Anderson, C A, Antony, D, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Calissano, M, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Durbin, R, Fitzpatrick, D R, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Grozeva, D, Humphries, S E, Hurles, M E, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Parker, V, Payne, F, Plagnol, V, Raymond, F L, Roberts, N, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R K, Serra, E, Spasic-Boskovic, O, Stevens, E, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Williamson, K A, Wilson, C, Whyte, T, Ciampi, A, Greenwood, C M T, Hendricks, A E, Li, R, Metrustry, S, Oualkacha, K, Tachmazidou, I, Xu, C, Zeggini, E, Bobrow, M, Bolton, P F, Durbin, R, Fitzpatrick, D R, Griffin, H, Hurles, M E, Kaye, J, Kennedy, K, Kent, A, Muddyman, D, Muntoni, F, Raymond, F L, Semple, R K, Smee, C, Spector, T D, Timpson, N J, Charlton, R, Ekong, R, Futema, M, Humphries, S E, Khawaja, F, Lopes, L R, Migone, N, Payne, S J, Plagnol, V, Pollitt, R C, Povey, S, Ridout, C K, Robinson, R L, Scott, R H, Shaw, A, Syrris, P, Taylor, R,
Perry, J R B, Brent Richards, J, Clement, G, Hart, D, Hysi, P, Metrustry, S, Hubbard, T, Lachance, G & Small, K S & Breen, G 2015, ' The UK10K project identifies rare variants in health and disease ', NATURE, vol. 526, pp. 82-90 . https://doi.org/10.1038/nature14962
2015, ' The UK10K project identifies rare variants in health and disease ', Nature, vol. 526, no. 7571, pp. 82-90 . https://doi.org/10.1038/nature14962
Academic Journal
Weerakkody, Ruwan A. ; Vandrovcova, Jana ; Kanonidou, Christina ; Mueller, Michael ; Gampawar, Piyush ; Ibrahim, Yousef ; Norsworthy, Penny ; Biggs, Jennifer ; Abdullah, Abdulshakur ; Ross, David ; Black, Holly A. ; Ferguson, David ; Cheshire, Nicholas J. ; Kazkaz, Hanadi ; Grahame, Rodney ; Ghali, Neeti ; Vandersteen, Anthony ; Pope, F. Michael ; Aitman, Timothy J.
In Genetics in Medicine November 2016 18(11):1119-1127
Academic Journal
European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI); Verstraeten, Aline; Perik, Melanie H A M; Baranowska, Anna A; Meester, Josephina A N; Van Den Heuvel, Lotte; Bastianen, Jarl; Kempers, Marlies; Krapels, Ingrid P C; Maas, Angela; Rideout, Andrea; Vandersteen, Anthony; Sobey, Glenda; Johnson, Diana; Fransen, Erik; Ghali, Neeti; Webb, Tom; Al-Hussaini, Abtehale; De Leeuw, Peter; Delmotte, Philippe; Lopez-Sublet, Marilucy; Pappaccogli, Marco; Sprynger, Muriel; Toubiana, Laurent; Van Laer, Lut; Van Dijk, Fleur S; Vikkula, Miikka; Samani, Nilesh J; Persu, Alexandre; Adlam, David; Loeys, Bart
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