학술논문
'학술논문'
에서 검색결과 64건 | 목록
1~10
Academic Journal
Cacheiro, Pilar; Lawson, Samantha; Van den Veyver, Ignatia B.; Marengo, Gabriel; Zocche, David; Murray, Stephen A.; Duyzend, Michael; Robinson, Peter N.; Smedley, Damian
In Genetics in Medicine July 2024 26(7)
Academic Journal
Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Academic Journal
Academic Journal
Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian; Guerrini, Renzo; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela
American Journal of Human Genetics. 110(8)
Academic Journal
Duyzend, Michael H.; Cacheiro, Pilar; Jacobsen, Julius O. B.; Giordano, Jessica; Brand, Harrison; Wapner, Ronald J.; Talkowski, Michael E.; Robinson, Peter N.; Smedley, Damian
Prenatal Diagnosis; Apr2024, Vol. 44 Issue 4, p454-464, 11p
Academic Journal
Cacheiro, Pilar; Westerberg, Carl Henrik; Mager, Jesse; Dickinson, Mary E.; Nutter, Lauryl M. J.; Muñoz-Fuentes, Violeta; Hsu, Chih-Wei; Van den Veyver, Ignatia B.; Flenniken, Ann M.; McKerlie, Colin; Murray, Stephen A.; Teboul, Lydia; Heaney, Jason D.; Lloyd, K. C. Kent; Lanoue, Louise; Braun, Robert E.; White, Jacqueline K.; Creighton, Amie K.; Laurin, Valerie; Guo, Ruolin
Academic Journal
Dhombres, Ferdinand; Morgan, Patricia; Chaudhari, Bimal P; Filges, Isabel; Sparks, Teresa N; Lapunzina, Pablo; Roscioli, Tony; Agarwal, Umber; Aggarwal, Shagun; Beneteau, Claire; Cacheiro, Pilar; Carmody, Leigh C; Collardeau‐Frachon, Sophie; Dempsey, Esther A; Dufke, Andreas; Duyzend, Michael Henri; Ghosh, Mirna; Giordano, Jessica L; Glad, Ragnhild; Grinfelde, Ieva; Iliescu, Dominic G; Ladewig, Markus S; Munoz‐Torres, Monica C; Pollazzon, Marzia; Radio, Francesca Clementina; Rodo, Carlota; Silva, Raquel Gouveia; Smedley, Damian; Sundaramurthi, Jagadish Chandrabose; Toro, Sabrina; Valenzuela, Irene; Vasilevsky, Nicole A; Wapner, Ronald J; Zemet, Roni; Haendel, Melissa A; Robinson, Peter N
American Journal of Medical Genetics Part C Seminars in Medical Genetics. 190(2)
Academic Journal
Cacheiro, Pilar; Pava, Diego; Parkinson, Helen; VanZanten, Maya; Wilson, Robert; Gunes, Osman; Int Mouse Phenotyping Consortium Damian Smedley
Academic Journal
Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune
Academic Journal
Cacheiro, Pilar; Muñoz-Fuentes, Violeta; Murray, Stephen A; Dickinson, Mary E; Bucan, Maja; Nutter, Lauryl MJ; Peterson, Kevin A; Haselimashhadi, Hamed; Flenniken, Ann M; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G; Beaudet, Arthur L; Heaney, Jason D; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J; Wardle-Jones, Hannah; Wells, Sara; Teboul, Lydia; Cater, Heather; Stewart, Michelle; Hough, Tertius; Wurst, Wolfgang; Sedlacek, Radislav; Adams, David J; Seavitt, John R; Tocchini-Valentini, Glauco; Mammano, Fabio; Braun, Robert E; McKerlie, Colin; Herault, Yann; de Angelis, Martin Hrabě; Mallon, Ann-Marie; Lloyd, KC Kent; Brown, Steve DM; Parkinson, Helen; Meehan, Terrence F; Smedley, Damian
Nature Communications. 11(1)
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