학술논문
'학술논문'
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1~10
Academic Journal
Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan A.; Afzali, Ben; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, HsiaoTuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Grajewski, Alana; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Petcharet, Leoyklang; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Scala, Marcello; Tomati, Valeria; Ferla, Matteo; Lena, Mariateresa; Cohen, Julie S.; Fatemi, Ali; Brokamp, Elly; Koziura, Mary E.; Nicouleau, Michael; Rio, Marlene; Siquier, Karine; Boddaert, Nathalie; Musante, Ilaria; Tamburro, Serena; Baldassari, Simona; Iacomino, Michele; Scudieri, Paolo; Bellus, Gary; Reed, Sara; Al Saif, Hind; Russo, Rossana Sanchez; Walsh, Matthew B.; Cantagrel, Vincent; Crunk, Amy; Gustincich, Stefano; Ruggiero, Sarah M.; Fitzgerald, Mark P.; Helbig, Ingo; Striano, Pasquale; Severino, Mariasavina; Salpietro, Vincenzo; Pedemonte, Nicoletta; Zara, Federico
In The American Journal of Human Genetics 7 March 2024 111(3):529-543
Academic Journal
Lesieur-Sebellin, Marion; Marzin, Pauline; Arnoux, Jean-Baptiste; Maurin, Marie-Laure; Receveur, Aline; Cantagrel, Vincent; Rose, Sylvia; Dorval, Guillaume; Levy, Jonathan; Malan, Valérie
In Morphologie December 2023 107(359) Supplement
Academic Journal
Lesieur-Sebellin, Marion; Marzin, Pauline; Arnoux, Jean-Baptiste; Maurin, Marie-Laure; Receveur, Aline; Cantagrel, Vincent; Rose, Sylvia; Dorval, Guillaume; Levy, Jonathan; Malan, Valérie
In European Journal of Medical Genetics October 2023 66(10)
Academic Journal
Nicolle, Romain; Altin, Nami; Siquier-Pernet, Karine; Salignac, Sherlina; Blanc, Pierre; Munnich, Arnold; Bole-Feysot, Christine; Malan, Valérie; Caron, Barthélémy; Nitschké, Patrick; Desguerre, Isabelle; Boddaert, Nathalie; Rio, Marlène; Rausell, Antonio; Cantagrel, Vincent
Academic Journal
Duval, Romain; Nicolas, Gael; Willemetz, Alexandra; Murakami, Yoshiko; Mikdar, Mahmoud; Vrignaud, Cedric; Megahed, Hisham; Cartron, Jean-Pierre; Masson, Cecile; Wehbi, Samer; Koehl, Bérengere; Hully, Marie; Siquier, Karine; Chemlay, Nicole; Rotig, Agnes; Lyonnet, Stanislas; Colin, Yves; Barcia, Giulia; Cantagrel, Vincent; Le Van Kim, Caroline; Hermine, Olivier; Kinoshita, Taroh; Peyrard, Thierry; Azouzi, Slim
In Transfusion clinique et biologique November 2021 28(4) Supplement:S30-S30
Academic Journal
Jordan, Valerie K; Fregeau, Brieana; Ge, Xiaoyan; Giordano, Jessica; Wapner, Ronald J; Balci, Tugce B; Carter, Melissa T; Bernat, John A; Moccia, Amanda N; Srivastava, Anshika; Martin, Donna M; Bielas, Stephanie L; Pappas, John; Svoboda, Melissa D; Rio, Marlène; Boddaert, Nathalie; Cantagrel, Vincent; Lewis, Andrea M; Scaglia, Fernando; Network, Undiagnosed Diseases; Kohler, Jennefer N; Bernstein, Jonathan A; Dries, Annika M; Rosenfeld, Jill A; DeFilippo, Colette; Thorson, Willa; Yang, Yaping; Sherr, Elliott H; Bi, Weimin; Scott, Daryl A
Human Mutation. 39(5)
Academic Journal
Kaiyrzhanov, Rauan; Rocca, Clarissa; Suri, Mohnish; Gulieva, Sughra; Zaki, Maha S.; Henig, Noa Z.; Siquier, Karine; Guliyeva, Ulviyya; Mounir, Samir M.; Marom, Daphna; Allahverdiyeva, Aynur; Megahed, Hisham; van Bokhoven, Hans; Cantagrel, Vincent; Rad, Aboulfazl; Pourkeramti, Alemeh; Dehghani, Boshra; Shao, Diane D.; Markus‐Bustani, Keren; Sofrin‐Drucker, Efrat
Academic Journal
Riedhammer, Korbinian M; Burgemeister, Anna L; Cantagrel, Vincent; Amiel, Jeanne; Siquier-Pernet, Karine; Boddaert, Nathalie; Hertecant, Jozef; Kannouche, Patricia L; Pouvelle, Caroline; Htun, Stephanie; Slavotinek, Anne M; Beetz, Christian; Diego-Alvarez, Dan; Kampe, Kapil; Fleischer, Nicole; Awamleh, Zain; Weksberg, Rosanna; Kopajtich, Robert; Meitinger, Thomas; Suleiman, Jehan
Human Molecular Genetics; 9/15/2022, Vol. 31 Issue 18, p3083-3094, 12p
Academic Journal
Coolen, Marion; Altin, Nami; Rajamani, Karthyayani; Pereira, Eva; Siquier-Pernet, Karine; Puig Lombardi, Emilia; Moreno, Nadjeda; Barcia, Giulia; Yvert, Marianne; Laquerrière, Annie; Pouliet, Aurore; Nitschké, Patrick; Boddaert, Nathalie; Rausell, Antonio; Razavi, Féréchté; Afenjar, Alexandra; Billette de Villemeur, Thierry; Al-Maawali, Almundher; Al-Thihli, Khalid; Baptista, Julia; Beleza-Meireles, Ana; Garel, Catherine; Legendre, Marine; Gelot, Antoinette; Burglen, Lydie; Moutton, Sébastien; Cantagrel, Vincent
American Journal of Human Genetics. May 5, 2022, Vol. 109 Issue 5, 909
Academic Journal
Megahed, Hisham; Nicouleau, Michaël; Barcia, Giulia; Medina-Cano, Daniel; Siquier-Pernet, Karine; Bole-Feysot, Christine; Parisot, Mélanie; Masson, Cécile; Nitschké, Patrick; Rio, Marlène; Bahi-Buisson, Nadia; Desguerre, Isabelle; Munnich, Arnold; Boddaert, Nathalie; Colleaux, Laurence; Cantagrel, Vincent
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