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
Hallgrímsson, Benedikt; Aponte, J; Katz, David; Bannister, Jordan; Riccardi, Sheri; Mahasuwan, Nick; McInnes, Brenda; Ferrara, Tracey; Lipman, Danika; Neves, Amanda; Spitzmacher, Jared; Larson, Jacinda; Bellus, Gary; Pham, Anh; Aboujaoude, Elias; Benke, Timothy; Chatfield, Kathryn; Davis, Shanlee; Elias, Ellen; Enzenauer, Robert; French, Brooke; Pickler, Laura; Shieh, Joseph; Slavotinek, Anne; Harrop, A; Innes, A; McCandless, Shawn; McCourt, Emily; Meeks, Naomi; Tartaglia, Nicole; Tsai, Anne; Wyse, J; Bernstein, Jonathan; Sanchez-Lara, Pedro; Forkert, Nils; Bernier, Francois; Spritz, Richard; Klein, Ophir
Genetics in Medicine. 22(10)
Academic Journal
Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica; Schaefer, G Bradley; Schorry, Elizabeth K; Scott, Daryl A; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J; Syed, Ashraf; Trapane, Pamela L; Ullrich, Nicole J; Wakefield, Emily G; Walsh, Laurence E; Wangler, Michael F; Zackai, Elaine; Claes, Kathleen BM; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M
Genetics in Medicine. 21(4)
Academic Journal
Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha; Aylsworth, Arthur; Azizi, Amedeo; Basel, Donald; Bellus, Gary; Bird, Lynne; Blazo, Maria; Burke, Leah; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria; Dills, Shelley; Dosa, Laura; Greenwood, Robert; Griffis, Cristin; Gupta, Punita; Hachen, Rachel; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi; Jordan, Justin; Kannu, Peter; Korf, Bruce; Lewis, Andrea; Listernick, Robert; Lonardo, Fortunato; Mahoney, Maurice; Ojeda, Mayra; McDonald, Marie; McDougall, Carey; Mendelsohn, Nancy; Miller, David; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary; Piscopo, Carmelo; Pond, Dinel; Randolph, Linda; Rauen, Katherine; Rednam, Surya; Rutledge, S; Saletti, Veronica; Schaefer, G; Schorry, Elizabeth; Scott, Daryl; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois; Syed, Ashraf; Trapane, Pamela; Ullrich, Nicole; Wakefield, Emily; Walsh, Laurence; Wangler, Michael; Zackai, Elaine; Claes, Kathleen; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine
Genetics in Medicine. 21(3)
Academic Journal
Parenti, Ilaria; Leitao, Elsa; Kuechler, Alma; Villard, Laurent; Goizet, Cyril; Courdier, Cecile; Bayat, Allan; Rossi, Alessandra; Julia, Sophie; Bruel, Ange-Line; Mau-Them, Frederic Tran; Nambot, Sophie; Lehalle, Daphne; Willems, Marjolaine; Lespinasse, James; Ghoumid, Jamal; Caumes, Roseline; Smol, Thomas; El Chehadeh, Salima; Schaefer, Elise; Abi-Warde, Marie-Therese; Keren, Boris; Afenjar, Alexandra; Tabet, Anne-Claude; Levy, Jonathan; Maruani, Anna; Aledo-Serrano, Angel; Garming, Waltraud; Milleret-Pignot, Clara; Chassevent, Anna; Koopmans, Marije; Verbeek, Nienke E.; Person, Richard; Belles, Rebecca; Bellus, Gary; Salbert, Bonnie A.; Kaiser, Frank J.; Mazzola, Laure; Convers, Philippe; Perrin, Laurine; Piton, Amelie; Wiegand, Gert; Accogli, Andrea; Brancati, Francesco; Benfenati, Fabio; Chatron, Nicolas; Lewis-Smith, David; Thomas, Rhys H.; Zara, Federico; Striano, Pasquale; Lesca, Gaetan; Depienne, Christel
Academic Journal
Garrity, Madison; Kavus, Haluk; Rojas-Vasquez, Marta; Valenzuela, Irene; Larson, Austin; Reed, Sara; Bellus, Gary; Mignot, Cyril; Munnich, Arnold; Isidor, Bertrand; Chung, Wendy K.
Cold Spring Harbor Molecular Case Studies; Aug2021, Vol. 7 Issue 4, p1-13, 13p
Academic Journal
Scala, Marcello; Tomati, Valeria; Cohen, Julie; Fatemi, Ali; Brokamp, Elly; Phillips, John; Koziura, Mary; Nicouleau, Michael; Rio, Marlene; Boddaert, Nathalie; Iacomino, Michele; Musante, Ilaria; Scudieri, Paolo; Baldassari, Simona; Rosenfeld, Jill A.; Bernstein, Jon; Bellus, Gary; Reed, Sara; Al Saif, Hind; Sanchez, Rossana; Walsh, Matthew; Cantagrel, Vincent; Striano, Pasquale; Salpietro, Vincenzo; Pedemonte, Nicoletta; Zara, Federico
Academic Journal
Academic Journal
Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G.; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L.; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M.; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W.; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K.; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K.; Powell, Cynthia M.; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P.; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C.; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine
Human Mutation. Nov 01, 2015 36(11):1052-1063
Academic Journal
Gambin, Tomasz; Yuan, Bo; Bi, Weimin; Liu, Pengfei; Rosenfeld, Jill A.; Coban-Akdemir, Zeynep; Pursley, Amber N.; Nagamani, Sandesh C. S.; Marom, Ronit; Golla, Sailaja; Dengle, Lauren; Petrie, Heather G.; Matalon, Reuben; Emrick, Lisa; Proud, Monica B.; Treadwell-Deering, Diane; Chao, Hsiao-Tuan; Koillinen, Hannele; Brown, Chester; Urraca, Nora; Mostafavi, Roya; Bernes, Saunder; Roeder, Elizabeth R.; Nugent, Kimberly M.; Bader, Patricia I.; Bellus, Gary; Cummings, Michael; Northrup, Hope; Ashfaq, Myla; Westman, Rachel; Wildin, Robert; Beck, Anita E.; Immken, LaDonna; Elton, Lindsay; Varghese, Shaun; Buchanan, Edward; Faivre, Laurence; Lefebvre, Mathilde; Schaaf, Christian P.; Walkiewicz, Magdalena; Yang, Yaping; Kang, Sung-Hae L.; Lalani, Seema R.; Bacino, Carlos A.; Beaudet, Arthur L.; Breman, Amy M.; Smith, Janice L.; Cheung, Sau Wai; Lupski, James R.; Patel, Ankita; Shaw, Chad A.; Stankiewicz, PaweA
Genome Medicine. September 21, 2017, Vol. 9 Issue 1
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