학술논문
'학술논문'
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1~10
Academic Journal
Ansari, Morad; Faour, Kamli N.W.; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M.; Denhoff, Erica R.; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M.; Firth, Helen; Breman, Amy M.; Bijlsma, Emilia K.; Iwata-Otsubo, Aiko; de Ravel, Thomy J.L.; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G.; Haack, Tobias B.; Korenke, G. Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M.; Low, Karen J.; Place, Emily; Humberson, Jennifer; Napier, Melanie P.; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A.; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tüttelmann, Frank; Conrad, Donald F.; O’Donnell-Luria, Anne; Talkowski, Michael E.; FitzPatrick, David R.; Boone, Philip M.
In Human Genetics and Genomics Advances 11 April 2024 5(2)
Academic Journal
Keisling, Julia; Bedoukian, Emma; Burstein, Danielle S.; Gaynor, J. William; Gray, Christopher; Krantz, Ian; Izumi, Kosuke; Leonard, Jacqueline; Lin, Kimberly Y.; Medne, Livija; Seymour, Christine; Skraban, Cara; Rippert, Alyssa L.; Ahrens-Nicklas, Rebecca C.
In The Journal of Pediatrics February 2024 265
Academic Journal
Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; 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.; Bennet, 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; Chanprasert, Sirisak; Chao, Hsiao-Tuan; 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; 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; 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.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe; 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; Sinsheimer, Janet; Sisco, Kathy; Smith, Edward; Smith, Kevin; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca; Stergachis, Andrew; Stoler, Joan; Sullivan, Kathleen; Sullivan, Jennifer; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia; 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, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Niggl, Eva; Bouman, Arjan; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D.R.O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Zhou, Dihong; Elgersma, Ype; van Esbroeck, Annelot C.M.
In The American Journal of Human Genetics 3 August 2023 110(8):1414-1435
Academic Journal
Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris; Anyane-Yeboa, Kwame; Argente, Jesús; Arn, Pamela; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne; Bruegger, Daniel; Chng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham, John; Gripp, Karen; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert; Jones, Kenneth; Jones, Marilyn; Kariminejad, Ariana; Kogan, Jillene; Lace, Baiba; Leroy, Julian; Lynch, Sally; McDonald, Marie; Meagher, Kirsten; Mendelsohn, Nancy; Micule, Ieva; Moeschler, John; Nampoothiri, Sheela; Ohashi, Kaoru; Powell, Cynthia; Ramanathan, Subhadra; Raskin, Salmo; Roeder, Elizabeth; Rio, Marlene; Rope, Alan; Sangha, Karan; Scheuerle, Angela; Schneider, Adele; Shalev, Stavit; Siu, Victoria; Smith, Rosemarie; Stevens, Cathy; Tkemaladze, Tinatin; Toimie, John; Toriello, Helga; Turner, Anne; Wheeler, Patricia; White, Susan; Young, Terri; Loomes, Kathleen; Pipan, Mary; Harrington, Ann; Zackai, Elaine; Rajagopalan, Ramakrishnan; Conlin, Laura; Deardorff, Matthew; McEldrew, Deborah; Pie, Juan; Ramos, Feliciano; Musio, Antonio; Kline, Antonie; Izumi, Kosuke; Raible, Sarah; Krantz, Ian
The American Journal of Medical Genetics - Part A. 191(8)
Academic Journal
Bedoukian, Emma; Reichert, Sara; DeChene, Elizabeth; Heck, Alexandra; Hershey, Jennifer; McManus, Morgan; Marchese, Michelle; Mulchandani, Surabhi; Reynoso Santos, Francis Jeshira; Wild, K. Taylor; Wood, Kathleen; Conlin, Laura; Dulik, Matthew; Rajagopalan, Ramakrishnan; Spinner, Nancy; Krantz, Ian
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Havrilla, James M.; Singaravelu, Anbumalar; Driscoll, Dennis M.; Minkovsky, Leonard; Helbig, Ingo; Medne, Livija; Wang, Kai; Krantz, Ian; Desai, Bimal R.
Academic Journal
Fetta, Anna; Toni, Francesco; Pettenuzzo, Ilaria; Ricci, Emilia; Rocca, Alessandro; Gambi, Caterina; Soliani, Luca; Di Pisa, Veronica; Martini, Silvia; Sperti, Giacomo; Cagnazzo, Valeria; Accorsi, Patrizia; Bartolini, Emanuele; Battaglia, Domenica; Bernardo, Pia; Canevini, Maria Paola; Ferrari, Anna Rita; Giordano, Lucio; Locatelli, Chiara; Mancardi, Margherita; Orsini, Alessandro; Pippucci, Tommaso; Pruna, Dario; Rosati, Anna; Suppiej, Agnese; Tagliani, Sara; Vaisfeld, Alessandro; Vignoli, Aglaia; Izumi, Kosuke; Krantz, Ian; Cordelli, Duccio Maria
Orphanet Journal of Rare Diseases. March 8, 2024, Vol. 19 Issue 1
Academic Journal
Nomakuchi, Tomoki T.; Danowitz, Melinda; Stewart, Blythe; Leonard, Jacqueline; Izumi, Kosuke; Krantz, Ian; Kolon, Thomas F.; Langdon, David; Skraban, Cara; Van Batavia, Jason; Zackai, Elaine; Jiao, Kai; Linn, Rebecca; Alexander, Caitlin; Zaontz, Mark; Vogiatzi, Maria G.; Pyle, Louise C.
American Journal of Medical Genetics. Part A; May2023, Vol. 191 Issue 5, p1418-1424, 7p
Academic Journal
Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier
Academic Journal
Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D. R. O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Sweetser, David A.; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Genomics England Res Consortium, Ype; Undiagnosed Dis Network, Annelot C. M. van; Elgersma, Ype; van Esbroeck, Annelot C. M.; Zhou, DH
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