학술논문
'학술논문'
에서 검색결과 104건 | 목록
30~40
Academic Journal
Machado, Rajiv D.; Welch, Carrie L.; Haimel, Matthias; Bleda, Marta; Colglazier, Elizabeth; Coulson, John D.; Debeljak, Marusa; Ekstein, Josef; Fineman, Jeffrey R.; Golden, William Christopher; Griffin, Emily L.; Hadinnapola, Charaka; Harris, Michael A.; Hirsch, Yoel; Hoover-Fong, Julie Elizabeth; Nogee, Lawrence; Romer, Lewis H.; Vesel, Samo; Graf, Stefan; Morrell, Nicholas W.; Southgate, Laura; Chung, Wendy K.; NIHR Bioresource Rare Dis
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; Ouwehand, Willem H; Papadia, Sofia; 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; Stirrups, Kathleen; Whitehorn, Deborah; Watt, Christopher; Attwood, Antony; Daugherty, Louise; Deevi, Sri VV; Halmagyi, Csaba; Hu, Fengyuan; James, Roger; Matser, Vera; Meacham, Stuart; Megy, Karyn; Penkett, Christopher J; Stirrups, Kathleen; Titterton, Catherine; Tuna, Salih; Yu, Ping; von Ziegenweldt, Julie; Astle, William; Carss, Keren; Greene, Daniel; Lango-Allen, Hana; Turro, Ernest; Astle, William; Greene, Daniel; Richardson, Sylvia; Turro, Ernest; Calleja, Paul; Rankin, Stuart; Turek, Wojciech; Bryson, Christine; Anderson, Julie; Fletcher, Debra; McJannet, Coleen; Stock, Sophie; Young, Tim; 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; Carss, Keren; Sanchis-Juan, Alba; Erwood, Marie; Dewhurst, Eleanor; Grozeva, Detelina; Raymond, F Lucy; 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; Smith, Kenneth; Kuijpers, Taco; Thrasher, Adrian; Thaventhiran, James; Brown, Matthew; Lango Allen, Hana; Simeoni, Ilenia; 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; Doffinger, Rainer; 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
Circulation. Nov 21, 2017 136(21):2022-2033
Abstract 14753: Loss of Function ABCC8 Mutations Are Associated With Pulmonary Arterial Hypertension
Academic Journal
Bohnen, Michael S; Ma, Lijiang; Zhu, Na; Qi, Hongjian; McClenaghan, Conor; Gonzaga-Jauregui, Claudia; Dewey, Frederick E; Overton, John D; Reid, Jeffrey G; Shuldiner, Alan R; Baras, Aris; Sampson, Kevin J; Bleda, Marta; Hadinnapola, Charaka; Haimel, Matthias; Bogaard, Harm J; Church, Colin; Coghlan, Gerry; Corris, Paul A; Eyries, Mélanie; Gibbs, J. Simon R; Girerd, Barbara; Houweling, Arjan C; Humbert, Marc; Kiely, David G; Lawrie, Allan; MacKenzie Ross, Rob V; Martin, Jennifer M; Montani, David; Peacock, Andrew J; Pepke-Zaba, Joanna; Soubrier, Florent; Suntharalingam, Jay; Toshner, Mark; Treacy, Carmen M; Trembath, Richard C; Vonk Noordegraaf, Anton; Wharton, John; Wilkins, Martin R; Wort, Stephen J; Yates, Katherine; Gräf, Stefan; Morrell, Nicholas W; Krishnan, Usha; Rosenzweig, Erika B; Shen, Yufeng; Nichols, Colin G; Kass, Robert S; Chung, Wendy K
Circulation. Nov 14, 2017 136(Suppl_1 Suppl 1):A14753-A14753
Academic Journal
Lopez, Javier; Coll, Jacobo; Haimel, Matthias; Kandasamy, Swaathi; Tarraga, Joaquin; Furio-Tari, Pedro; Bari, Wasim; Bleda, Marta; Rueda, Antonio; Gräf, Stefan; Rendon, Augusto; Dopazo, Joaquin; Medina, Ignacio
Nucleic Acids Research; 7/3/2017, Vol. 45 Issue W1, pW189-W194, 6p
Academic Journal
Rhodes, Christopher J.; Ghataorhe, Pavandeep; Wharton, John; Rue-Albrecht, Kevin C.; Hadinnapola, Charaka; Watson, Geoffrey; Bleda, Marta; Haimel, Matthias; Coghlan, Gerry; Corris, Paul A.; Howard, Luke S.; Kiely, David G.; Peacock, Andrew J.; Pepke-Zaba, Joanna; Toshner, Mark R.; Wort, S. John; Gibbs, J. Simon R.; Lawrie, Allan; Gräf, Stefan; Morrell, Nicholas W.
Academic Journal
Koehler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas; Carmody, Leigh C.; Lewis-Smith, David; Vasilevsky, Nicole A.; Danis, Daniel; Balagura, Ganna; Baynam, Gareth; Brower, Amy M.; Callahan, Tiffany J.; Chute, Christopher G.; Est, Johanna L.; Galer, Peter D.; Ganesan, Shiva; Griese, Matthias; Haimel, Matthias; Pazmandi, Julia; Hanauer, Marc; Harris, Nomi L.; Hartnett, Michael J.; Hastreiter, Maximilian; Hauck, Fabian; He, Yongqun; Jeske, Tim; Kearney, Hugh; Kindle, Gerhard; Klein, Christoph; Knoflach, Katrin; Krause, Roland; Lagorce, David; McMurry, Julie A.; Miller, Jillian A.; Munoz-Torres, Monica C.; Peters, Rebecca L.; Rapp, Christina K.; Rath, Ana M.; Rind, Shahmir A.; Rosenberg, Avi Z.; Segal, Michael M.; Seidel, Markus G.; Smedley, Damian; Talmy, Tomer; Thomas, Yarlalu; Wiafe, Samuel A.; Xian, Julie; Yueksel, Zafer; Helbig, Ingo; Mungall, Christopher J.; Haendel, Melissa A.; Robinson, Peter N.
Periodical
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; Ouwehand, Willem H; Papadia, Sofia; 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; Stirrups, Kathleen; Whitehorn, Deborah; Watt, Christopher; Attwood, Antony; Daugherty, Louise; Deevi, Sri VV; Halmagyi, Csaba; Hu, Fengyuan; James, Roger; Matser, Vera; Meacham, Stuart; Megy, Karyn; Penkett, Christopher J; Stirrups, Kathleen; Titterton, Catherine; Tuna, Salih; Yu, Ping; von Ziegenweldt, Julie; Astle, William; Carss, Keren; Greene, Daniel; Lango-Allen, Hana; Turro, Ernest; Astle, William; Greene, Daniel; Richardson, Sylvia; Turro, Ernest; Calleja, Paul; Rankin, Stuart; Turek, Wojciech; Bryson, Christine; Anderson, Julie; Fletcher, Debra; McJannet, Coleen; Stock, Sophie; Young, Tim; 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; Carss, Keren; Sanchis-Juan, Alba; Erwood, Marie; Dewhurst, Eleanor; Grozeva, Detelina; Raymond, F Lucy; 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; Smith, Kenneth; Kuijpers, Taco; Thrasher, Adrian; Thaventhiran, James; Brown, Matthew; Lango Allen, Hana; Simeoni, Ilenia; 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; Doffinger, Rainer; 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
Circulation (Ovid); November 2017, Vol. 136 Issue: 21 p2022-2033, 12p
Academic Journal
Hodgson, Joshua; Swietlik, Emilia M.; Salmon, Richard M.; Hadinnapola, Charaka; Nikolic, Ivana; Wharton, John; Guo, Jingxu; Liley, James; Haimel, Matthias; Bleda, Marta; Southgate, Laura; Machado, Rajiv D.; Martin, Jennifer M.; Treacy, Carmen M.; Yates, Katherine; Daugherty, Louise C.; Shamardina, Olga; Whitehorn, Deborah; Holden, Simon; Bogaard, Harm J.; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A.; Danesino, Cesare; Eyries, Melanie; Gall, Henning; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Girerd, Barbara; Houweling, Arjan C.; Howard, Luke; Humbert, Marc; Kiely, David G.; Kovacs, Gabor; Lawrie, Allan; Ross, Robert V. MacKenzie; Moledina, Shahin; Montani, David; Olschewski, Andrea; Olschewski, Horst; Ouwehand, Willem H.; Peacock, Andrew J.; Pepke-Zaba, Joanna; Prokopenko, Inga; Rhodes, Christopher J.; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Suntharalingam, Jay; Toshner, Mark R.; Trembath, Richard C.; Noordegraaf, Anton Vonk; Wort, Stephen J.; Wilkins, Martin R.; Yu, Paul B.; Li, Wei; Graef, Stefan; Upton, Paul D.; Morrell, Nicholas W.
Periodical
Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marçais, Nolwenn; Kleefstra, Tjitske; López-Martín, Estrella; Macek, Milan; Mencarelli, Maria Antonietta; Moutton, Sébastien; Pfundt, Rolph; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Safraou, Hana; Schwarz, Martin; Tartaglia, Marco; Thauvin-Robinet, Christel; Thevenon, Julien; Mau-Them, Frédéric Tran; Trimouille, Aurélien; Votypka, Pavel; de Vries, Bert B.A.; Willemsen, Marjolein H.; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Abbott, Kristin M.; Banka, Siddharth; de Boer, Elke; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Gilissen, Christian; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Martín, Estrella López; Macek, Milan; Matalonga, Leslie; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Riess, Olaf; Rooryck, Caroline; Ryba, Lukas; Agathe, Jean-Madeleine de Sainte; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Zguro, Kristina; Boer, Elke de; Cohen, Enzo; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Gao, Fei; Gilissen, Christian; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Matalonga, Leslie; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; te Paske, Iris B.A.W.; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; Trimouille, Aurélien; van der Velde, Joeri K.; Vandrovcova, Jana; Vitobello, Antonio; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; ‘t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; Agathe, Jean-Madeleine de Sainte; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Osorio, Andrés Nascimento; Depienne, Christel; Roos, Andreas; Maystadt, Isabelle; Cordts, Isabell; Deschauer, Marcus; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Başak, Ayşe Nazlı; Claeys, Kristl; Boztug, Kaan; Haimel, Matthias; W.E, Gijs; Ruivenkamp, Claudia A.L.; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Balicza, Peter; Molnar, Maria Judit; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Schröck, Evelin; Rump, Andreas; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Horvath, Rita; Chinnery, Patrick F.; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; May, Patrick; Beeson, David; Cossins, Judith; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Afenjar, Alexandra; Goldenberg, Alice; Masurel, Alice; Phan, Alice; Dieux-Coeslier, Anne; Fargeot, Anne; Guerrot, Anne-Marie; Toutain, Annick; Molin, Arnaud; Sorlin, Arthur; Putoux, Audrey; Jouret, Béatrice; Laudier, Béatrice; Demeer, Bénédicte; Doray, Bérénice; Bonniaud, Bertille; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Leheup, Bruno; Reversade, Bruno; Paul, Carle; Vincent-Delorme, Catherine; Neiva, Cecilia; Poirsier, Céline; Quélin, Chloé; Chiaverini, Christine; Coubes, Christine; Francannet, Christine; Colson, Cindy; Desplantes, Claire; Wells, Constance; Goizet, Cyril; Lederer, Damien; Sanlaville, Damien; Amram, Daniel; Lehalle, Daphné; Geneviève, David; Heron, Delphine; Lacombe, Didier; Gaillard, Dominique; Zivi, Einat; Sarrazin, Elisabeth; Steichen, Elisabeth; Schaefer, Élise; Lacaze, Elodie; Jacquemin, Emmanuel; Bongers, Ernie; Kilic, Esra; Colin, Estelle; Giuliano, Fabienne; Prieur, Fabienne; Laffargue, Fanny; Morice-Picard, Fanny; Petit, Florence; Cartault, François; Feillet, François; Baujat, Geneviève; Morin, Gilles; Diene, Gwenaëlle; Journel, Hubert; Maystadt, Isabelle; Perthus, Isabelle; Lespinasse, James; Alessandri, Jean-Luc; Amiel, Jeanne; Martinovic, Jelena; Delanne, Julian; Albuisson, Juliette; Lambert, Laëtitia; Perrin, Laurence; Ousager, Lilian Bomme; Van Maldergem, Lionel; Pinson, Lucile; Ruaud, Lyse; Samimi, Mahtab; Bournez, Marie; Bonnet-Dupeyron, Marie Noëlle; Vincent, Marie; Jacquemont, Marie-Line; Cordier-Alex, Marie-Pierre; Gérard-Blanluet, Marion; Willems, Marjolaine; Spodenkiewicz, Marta; Doco-Fenzy, Martine; Rossi, Massimiliano; Renaud, Mathilde; Fradin, Mélanie; Mathieu, Michèle; Holder-Espinasse, Muriel H.; Houcinat, Nada; Hanna, Nadine; Leperrier, Nathalie; Chassaing, Nicolas; Philip, Nicole; Boute, Odile; Van Kien, Philippe Khau; Parent, Philippe; Bitoun, Pierre; Sarda, Pierre; Vabres, Pierre; Jouk, Pierre-Simon; Touraine, Renaud; El Chehadeh, Salima; Whalen, Sandra; Marlin, Sandrine; Passemard, Sandrine; Grotto, Sarah; Bellanger, Séverine Audebert; Blesson, Sophie; Nambot, Sophie; Naudion, Sophie; Lyonnet, Stanislas; Odent, Sylvie; Attie-Bitach, Tania; Busa, Tiffany; Drouin-Garraud, Valérie; Layet, Valérie; Bizaoui, Varoona; Cusin, Véronica; Capri, Yline; Alembik, Yves; Vitobello, Antonio; Vissers, Lisenka E.L.M.; Faivre, Laurence
Genetics in Medicine; 20230101, Issue: Preprints
Academic Journal
Wei, Wei; Tuna, Salih; Keogh, Michael J.; Smith, Katherine R.; Aitman, Timothy J.; Beales, Phil L.; Bennett, David L.; Gale, Daniel P.; Bitner-Glindzicz, Maria A. K.; Black, Graeme C.; Brennan, Paul; Elliott, Perry; Flinter, Frances A.; Floto, R. Andres; Houlden, Henry; Irving, Melita; Koziell, Ania; Maher, Eamonn R.; Markus, Hugh S.; Morrell, Nicholas W.; Newman, William G.; Roberts, Irene; Sayer, John A.; Smith, Kenneth G. C.; Taylor, Jenny C.; Watkins, Hugh; Webster, Andrew R.; Wilkie, Andrew O. M.; Williamson, Catherine; Attwood, Anthony; Brown, Matthew; Brod, Naomi Clements; Crisp-Hihn, Abigail; Davis, John; Deevi, Sri V. V.; Dewhurst, Eleanor F.; Edwards, Karen; Erwood, Marie; Fox, James; Frary, Amy J.; Hu, Fengyuan; Jolley, Jennifer; Kingston, Nathalie; Linger, Rachel; Mapeta, Rutendo; Martin, Jennifer; Meacham, Stuart; Papadia, Sofia; Rayner-Matthews, Paula J.; Samarghitean, Crina; Shamardina, Olga; Simeoni, Ilenia; Staines, Simon; Staples, Emily; Stark, Hannah; Stephens, Jonathan; Titterton, Catherine; von Ziegenweidt, Julie; Watt, Christopher; Whitehorn, Deborah; Wood, Yvette; Yates, Katherine; Yu, Ping; James, Roger; Ashford, Sofie; Penkett, Christopher J.; Stirrups, Kathleen E.; Bariana, Tadbir; Lentaigne, Claire; Sivapalaratnam, Suthesh; Westbury, Sarah K.; Allsup, David J.; Bakchoul, Tamam; Biss, Tina; Boyce, Sara; Collins, Janine; Collins, Peter W.; Curry, Nicola S.; Downes, Kate; Dutt, Tina; Erber, Wendy N.; Evans, Gillian; Everington, Tamara; Favier, Remi; Gomez, Keith; Greene, Daniel; Gresele, Paolo; Hart, Daniel; Kazmi, Rashid; Kelly, Anne M.; Lambert, Michele; Madan, Bella; Mangles, Sarah; Mathias, Mary; Millar, Carolyn; Obaji, Samya; Peerlinck, Kathelijne; Roughley, Catherine; Schulman, Sol; Scully, Marie; Shapiro, Susan E.; Sibson, Keith; Sims, Matthew C.; Tait, R. Campbell; Talks, Kate; Thys, Chantal; Toh, Cheng-Hock; Van Geet, Chris; Westwood, John-Paul; Mumford, Andrew D.; Ouwehand, Willem H.; Freson, Kathleen; Laffan, Michael A.; Tan, Rhea Y. Y.; Harkness, Kirsty; Mehta, Sarju; Muir, Keith W.; Hassan, Ahamad; Traylor, Matthew; Drazyk, Anna M.; Parry, David; Ahmed, Munaza; Kazkaz, Hanadi; Vandersteen, Anthony M.; Ormondroyd, Elizabeth; Thomson, Kate; Dent, Timothy; Buchan, Rachel J.; Bueser, Teofila; Carr-White, Gerald; Cook, Stuart; Daniels, Matthew J.; Harper, Andrew R.; Ware, James S.; Dixon, Peter H.; Chambers, Jenny; Cheng, Floria; Estiu, Maria C.; Hague, William M.; Marschall, Hanns-Ulrich; Vazquez-Lopez, Marta; Arno, Gavin; French, Courtney E.; Michaelides, Michel; Moore, Anthony T.; Sanchis-Juan, Alba; Carss, Keren; Raymond, F. Lucy; Chinnery, Patrick F.; Griffiths, Philip; Horvath, Rita; Hudson, Gavin; Jurkute, Neringa; Pyle, Angela; Yu-Wai-Man, Patrick; Whitworth, James; Adlard, Julian; Armstrong, Ruth; Brewer, Carole; Casey, Ruth; Cole, Trevor R. P.; Evans, Dafydd Gareth; Greenhalgh, Lynn; Hanson, Helen L.; Hoffman, Jonathan; Izatt, Louise; Kumar, Ajith; Lalloo, Fiona; Ong, Kai Ren; Park, Soo-Mi; Searle, Claire; Side, Lucy; Snape, Katie; Woodward, Emma; Tischkowitz, Marc; Grozeva, Detelina; Kurian, Manju A.; Themistocleous, Andreas C.; Gosal, David; Marshall, Andrew; Matthews, Emma; McCarthy, Mark I.; Renton, Tara; Rice, Andrew S. C.; Vale, Tom; Walker, Suellen M.; Woods, Christopher Geoffrey; Thaventhiran, James E.; Allen, Hana Lango; Savic, Sinisa; Alachkar, Hana; Antrobus, Richard; Baxendale, Helen E.; Browning, Michael J.; Buckland, Matthew S.; Cooper, Nichola; Edgar, J. David M.; Egner, William; Gilmour, Kimberly C.; Goddard, Sarah; Gordins, Pavels; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Hayman, Grant; Herwadkar, Archana; Huissoon, Aarnoud P.; Jolles, Stephen; Kelleher, Peter; Kumararatne, Dinakantha; Longhurst, Hilary; Lorenzo, Lorena E.; Lyons, Paul A.; Maimaris, Jesmeen; Noorani, Sadia; Richter, Alex; Sargur, Ravishankar B.; Sewell, W. A. Carrock; Thomas, David; Thomas, Moira J.; Worth, Austen; Yong, Patrick F. K.; Kuijpers, Taco W.; Thrasher, Adrian J.; Levine, Adam P.; Sadeghi-Alavijeh, Omid; Wong, Edwin K. S.; Cook, H. Terence; Chan, Melanie M. Y.; Hall, Matthew; Harris, Claire; McAlinden, Paul; Marchbank, Kevin J.; Marks, Stephen; Maxwell, Heather; Mozere, Monika; Wessels, Julie; Johnson, Sally A.; Bleda, Marta; Hadinnapola, Charaka; Haimel, Matthias; Swietlik, Emilia; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul; Danesino, Cesare; Eyries, Melanie; Gall, Henning; Ghofrani, Hossein-Ardeschir; Gibbs, J. Simon R.; Girerd, Barbara; Holden, Simon; Houweling, Arjan; Howard, Luke S.; Humbert, Marc; Kiely, David G.; Kovacs, Gabor; Lawrie, Allan; Ross, Robert V. MacKenzie; Moledina, Shahin; Montani, David; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Peacock, Andrew; Pepke-Zaba, Joanna; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Suntharalingam, Jay; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Wharton, John; Wilkins, Martin R.; Wort, Stephen J.; Graf, Stefan; Louka, Eleni; Roy, Noemi B.; Rao, Anupama; Ancliff, Philip; Babbs, Christian; Layton, D. Mark; Mead, Adam J.; O'Sullivan, Jennifer; Okoli, Steven; Saleem, Moin; Bierzynska, Agnieszka; Diz, Carmen Bugarin; Colby, Elizabeth; Ekani, Melanie N.; Satchell, Simon; Fowler, Tom; Rendon, Augusto; Scott, Richard; Smedley, Damian; Thomas, Ellen; Caulfield, Mark; Abbs, Stephen; Burrows, Nigel; Chitre, Manali; Gattens, Michael; Gurnell, Mark; Kelsall, Wilf; Poole, Ken E. S.; Ross-Russell, Robert; Spasic-Boskovic, Olivera; Twiss, Philip; Wagner, Annette; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Cleary, Maureen; Dattani, Mehul; Ganesan, Vijeya; Pilkington, Clarissa; Rahman, Shamima; Shah, Neil; Wedderburn, Lucy; Compton, Cecilia J.; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Josifova, Dragana; Mohammed, Shehla N.; Robert, Leema; Rose, Sarah J.; Ruddy, Deborah M.; Sarkany, Robert N.; Sayer, Genevieve; Shaw, Adam C.; Campbell, Carolyn; Gibson, Kate; Koelling, Nils; Lester, Tracy; Nemeth, Andrea H.; Palles, Claire; Patel, Smita; Sen, Arjune; Taylor, John; Tomlinson, Ian P.; Malka, Samantha; Browning, Andrew C.; Burn, John; De Soyza, Anthony; Graham, Jodie; Pearce, Simon; Quinton, Richard; Schaefer, Andrew M.; Wilson, Brian T.; Wright, Michael; Simpson, Michael; Syrris, Petros; Bradley, John R.; Turro, Ernest; NIHR BioResource-Rare Dis; 100000 Genomes Project-Rare Dis
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[AR] Haimel, Matthias
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