학술논문
'학술논문'
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1~10
Academic Journal
European Journal of Human Genetics. 32(9):1037-1044
Academic Journal
Fehlings, Darcy L.; Zarrei, Mehdi; Engchuan, Worrawat; Sondheimer, Neal; Thiruvahindrapuram, Bhooma; MacDonald, Jeffrey R.; Higginbotham, Edward J.; Thapa, Ritesh; Behlim, Tarannum; Aimola, Sabrina; Switzer, Lauren; Ng, Pamela; Wei, John; Danthi, Prakroothi S.; Pellecchia, Giovanna; Lamoureux, Sylvia; Ho, Karen; Pereira, Sergio L.; de Rijke, Jill; Sung, Wilson W. L.; Mowjoodi, Alireza; Howe, Jennifer L.; Nalpathamkalam, Thomas; Manshaei, Roozbeh; Ghaffari, Siavash; Whitney, Joseph; Patel, Rohan V.; Hamdan, Omar; Shaath, Rulan; Trost, Brett; Knights, Shannon; Samdup, Dawa; McCormick, Anna; Hunt, Carolyn; Kirton, Adam; Kawamura, Anne; Mesterman, Ronit; Gorter, Jan Willem; Dlamini, Nomazulu; Merico, Daniele; Hilali, Murto; Hirschfeld, Kyle; Grover, Kritika; Bautista, Nelson X.; Han, Kara; Marshall, Christian R.; Yuen, Ryan K. C.; Subbarao, Padmaja; Azad, Meghan B.; Turvey, Stuart E.; Mandhane, Piush; Moraes, Theo J.; Simons, Elinor; Maxwell, George; Shevell, Michael; Costain, Gregory; Michaud, Jacques L.; Hamdan, Fadi F.; Gauthier, Julie; Uguen, Kevin; Stavropoulos, Dimitri J.; Wintle, Richard F.; Oskoui, Maryam; Scherer, Stephen W.
Nature Genetics. 56(4):585-594
Academic Journal
James Chettle; Raymond J. Louie; Olivia Larner; Robert Best; Kevin Chen; Josephine Morris; Zinaida Dedeic; Anna Childers; R. Curtis Rogers; Barbara R. DuPont; Cindy Skinner; Sébastien Küry; Kevin Uguen; Marc Planes; Danielle Monteil; Megan Li; Aviva Eliyahu; Lior Greenbaum; Nofar Mor; Thomas Besnard; Bertrand Isidor; Benjamin Cogné; Alyssa Blesson; Anne Comi; Ingrid M. Wentzensen; Blake Vuocolo; Seema R. Lalani; Roberta Sierra; Lori Berry; Kent Carter; Stephan J. Sanders; Sarah P. Blagden
HGG Advances, Vol 5, Iss 4, Pp 100345- (2024)
Academic Journal
Kevin Uguen; Marlène Le Tertre; Dimitri Tchernitchko; Ahmad Elbahnsi; Sandrine Maestri; Isabelle Gourlaouen; Claude Férec; Chandran Ka; Isabelle Callebaut; Gérald Le Gac
HGG Advances, Vol 5, Iss 4, Pp 100335- (2024)
Academic Journal
Chettle, James; Louie, Raymond J.; Larner, Olivia; Best, Robert; Chen, Kevin; Morris, Josephine; Dedeic, Zinaida; Childers, Anna; Rogers, R. Curtis; DuPont, Barbara R.; Skinner, Cindy; Küry, Sébastien; Uguen, Kevin; Planes, Marc; Monteil, Danielle; Li, Megan; Eliyahu, Aviva; Greenbaum, Lior; Mor, Nofar; Besnard, Thomas; Isidor, Bertrand; Cogné, Benjamin; Blesson, Alyssa; Comi, Anne; Wentzensen, Ingrid M.; Vuocolo, Blake; Lalani, Seema R.; Sierra, Roberta; Berry, Lori; Carter, Kent; Sanders, Stephan J.; Blagden, Sarah P.
In Human Genetics and Genomics Advances 10 October 2024 5(4)
Academic Journal
Uguen, Kevin; Le Tertre, Marlène; Tchernitchko, Dimitri; Elbahnsi, Ahmad; Maestri, Sandrine; Gourlaouen, Isabelle; Férec, Claude; Ka, Chandran; Callebaut, Isabelle; Le Gac, Gérald
In Human Genetics and Genomics Advances 10 October 2024 5(4)
Academic Journal
Padhi, Evin M; Hayeck, Tristan J; Cheng, Zhang; Chatterjee, Sumantra; Mannion, Brandon J; Byrska-Bishop, Marta; Willems, Marjolaine; Pinson, Lucile; Redon, Sylvia; Benech, Caroline; Uguen, Kevin; Audebert-Bellanger, Séverine; Le Marechal, Cédric; Férec, Claude; Efthymiou, Stephanie; Rahman, Fatima; Maqbool, Shazia; Maroofian, Reza; Houlden, Henry; Musunuri, Rajeeva; Narzisi, Giuseppe; Abhyankar, Avinash; Hunter, Riana D; Akiyama, Jennifer; Fries, Lauren E; Ng, Jeffrey K; Mehinovic, Elvisa; Stong, Nick; Allen, Andrew S; Dickel, Diane E; Bernier, Raphael A; Gorkin, David U; Pennacchio, Len A; Zody, Michael C; Turner, Tychele N
Human Genomics. 15(1)
Academic Journal
Mah-Som, Annelise Y.; Daw, Jil; Huynh, Diana; Wu, Mengcheng; Creekmore, Benjamin C.; Burns, William; Skinner, Steven A.; Holla, Øystein L.; Smeland, Marie F.; Planes, Marc; Uguen, Kevin; Redon, Sylvia; Bierhals, Tatjana; Scholz, Tasja; Denecke, Jonas; Mensah, Martin A.; Sczakiel, Henrike L.; Tichy, Heidelis; Verheyen, Sarah; Blatterer, Jasmin; Schreiner, Elisabeth; Thies, Jenny; Lam, Christina; Spaeth, Christine G.; Pena, Loren; Ramsey, Keri; Narayanan, Vinodh; Seaver, Laurie H.; Rodriguez, Diana; Afenjar, Alexandra; Burglen, Lydie; Lee, Edward B.; Chou, Tsui-Fen; Weihl, Conrad C.; Shinawi, Marwan S.
In The American Journal of Human Genetics 2 November 2023 110(11):1959-1975
Academic Journal
Academic Journal
Cogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie MHF; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C; Zyskind, Jacob; Holla, Øystein L; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind L; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N; Dewan, Tammie; Coban Akdemir, Zeynep H; Telegrafi, Aida; Zackai, Elaine H; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; CAUSES Study; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G; Lowenstein, Dan; Posey, Jennifer E; Denommé-Pichon, Anne-Sophie
American journal of human genetics. 104(3)
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