학술논문
'학술논문'
에서 검색결과 278건 | 목록
20~30
Academic Journal
Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E.; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A.; Dyment, David A.; Sampson, Jacinda B.; Pajusalu, Sander; Austin‐Tse, Christina; Hurth, Kyle; Cohen, Julie S.; Mcwalter, Kirsty; Warman‐Chardon, Jodi; Crunk, Amy; Foley, A. Reghan; 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; Cassini, Thomas; 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.; 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.; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; 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; 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, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Leblanc, Kimberly; Lee, Brendan H.; Lewis, Richard A.; Liu, Pengfei; 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; Mcconkie‐Rosell, Allyn; Mccray, Alexa T.; Mcgee, Elisabeth; Might, Matthew; Mikati, Mohamad; 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.; 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; 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, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Amelia, L.M. Tan; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; 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; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Mammen, Andrew L.; O'Donnell‐Luria, Anne; Bönnemann, Carsten G.
Annals of Clinical and Translational Neurology. March, 2024, Vol. 11 Issue 3, p629, 640 p.
Academic Journal
Leonard, Jacqueline; Kilberg, Marissa; Vogiatzi, Maria; Gibson, Chris; Van Batavia, Jason; Morrow, Leela; Bamba, Vaneeta; Pinney, Sara; Gray, Christopher; Skraban, Cara; Izumi, Kosuke; Pyle, Louise
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Academic Journal
Sharma, Mehul; Leung, Daniel; Momenilandi, Mana; Jones, Lauren CW; Pacillo, Lucia; James, Alyssa E; Murrell, Jill R; Delafontaine, Selket; Maimaris, Jesmeen; Vaseghi-Shanjani, Maryam; Del Bel, Kate L; Lu, Henry Y; Chua, Gilbert T; Di Cesare, Silvia; Fornes, Oriol; Liu, Zhongyi; Di Matteo, Gigliola; Fu, Maggie P; Amodio, Donato; San Tam, Issan Yee; Chan, Gavin Shueng Wai; Sharma, Ashish A; Dalmann, Joshua; van der Lee, Robin; Blanchard-Rohner, Géraldine; Lin, Susan; Philippot, Quentin; Richmond, Phillip A; Lee, Jessica J; Matthews, Allison; Seear, Michael; Turvey, Alexandra K; Philips, Rachael L; Brown-Whitehorn, Terri F; Gray, Christopher J; Izumi, Kosuke; Treat, James R; Wood, Kathleen H; Lack, Justin; Khleborodova, Asya; Niemela, Julie E; Yang, Xingtian; Liang, Rui; Kui, Lin; Wong, Christina Sze Man; Poon, Grace Wing Kit; Hoischen, Alexander; van der Made, Caspar I; Yang, Jing; Chan, Koon Wing; Da Rosa Duque, Jaime Sou; Lee, Pamela Pui Wah; Ho, Marco Hok Kung; Chung, Brian Hon Yin; Le, Huong Thi Minh; Yang, Wanling; Rohani, Pejman; Fouladvand, Ali; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Miryounesi, Mohammad; Puel, Anne; Shahrooei, Mohammad; Finocchi, Andrea; Rossi, Paolo; Rivalta, Beatrice; Cifaldi, Cristina; Novelli, Antonio; Passarelli, Chiara; Arasi, Stefania; Bullens, Dominique; Sauer, Kate; Claeys, Tania; Biggs, Catherine M; Morris, Emma C; Rosenzweig, Sergio D; O’Shea, John J; Wasserman, Wyeth W; Bedford, H Melanie; van Karnebeek, Clara DM; Palma, Paolo; Burns, Siobhan O; Meyts, Isabelle; Casanova, Jean-Laurent; Lyons, Jonathan J; Parvaneh, Nima; Van Nguyen, Anh Thi; Cancrini, Caterina; Heimall, Jennifer; Ahmed, Hanan; McKinnon, Margaret L; Lau, Yu Lung; Béziat, Vivien; Turvey, Stuart E
Journal of Experimental Medicine. 220(5)
Academic Journal
Kilich, Gonench; Hassey, Kelly; Behrens, Edward M.; Falk, Marni; Vanderver, Adeline; Rader, Daniel J.; Cahill, Patrick J.; Raper, Anna; Zhang, Zhe; Westerfer, Dawn; Jadhav, Tanaya; Conlin, Laura; Izumi, Kosuke; Rajagopalan, Ramakrishnan; Sullivan, Kathleen E.
NPJ Genomic Medicine; 1/11/2024, Vol. 9 Issue 1, p1-6, 6p
Academic Journal
Baldridge, Dustin; Kaster, Levi; Sancimino, Catherine; Srivastava, Siddharth; Molholm, Sophie; Gupta, Aditi; Oh, Inez; Lanzotti, Virginia; Grewal, Daleep; Riggs, Erin Rooney; Savatt, Juliann M.; Hauck, Rachel; Sveden, Abigail; Wasserstein, Melissa; Sahin, Mustafa; Wangler, Michael F.; Schultz, Robert; Gropman, Andrea; Smith-Hicks, Constance; Abbeduto, Len; German, Kendell; DaWalt, Leann Smith; Neul, Jeffrey L.; Walkley, Steven U.; Storch, Eric A.; Samaco, Rodney; Izumi, Kosuke; Pandey, Juhi; Berger, Seth I.; Cohen, Julie S.; Shankar, Suma; Doherty, Dan; Mahida, Sonal; Dies, Kira A.; Clarke, Megan; Taylor, Alexa; Berl, Madison; German, Ryan; Nguyen, Christina; Harris, Holly K.; Hut, Amanda; Gomez, Vanessa; Arneson, Carrie L.; Horn, Isaac; Lavezzi, Gabriel Damon; Grypp, Diane; McNeil, Devinae; White, Cailin; Rusyniak, Julie; Higareda, Abigail Moradel; Deppen, Paul; Bican, Anna; Rockouski, Madeline; Schneider, Emily; Thompson, Madeline; Kinard, Jessica; Minor, Brittany
Journal of Neurodevelopmental Disorders. April 17, 2024, Vol. 16 Issue 1
Academic Journal
Patterson, Victoria; Ullah, Farid; Bryant, Laura; Dong Li; Griffin, John N.; Sidhu, Alpa; Saliganan, Sheila; Blaile, Mackenzie; Saenz, Margarita S.; Smith, Rosemarie; Ellingwood, Sara; Grange, Dorothy K.; Xuyun Hu; Mireguli, Maimaiti; Yanfei Luo; Yiping Shen; Mulhern, Maureen; Zackai, Elaine; Ritter, Alyssa; Izumi, Kosuke
Academic Journal
Guo, Rose; Rippert, Alyssa L.; Cook, Edward B.; Alves, Cesar Augusto P.; Bird, Lynne M.; Izumi, Kosuke
American Journal of Medical Genetics. Part A; Oct2023, Vol. 191 Issue 10, p2602-2609, 8p
Academic Journal
Pujol‐Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E.; Albano, Giuseppe; Miller, Danny E.; Allworth, Aimee; Bennett, James T.; Byers, Peter H.; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B.; Gillentine, Madelyn A.; Glass, Ian; Hing, Anne; Horike‐Pyne, Martha; Leppig, Kathleen A.; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H.; Rosenthal, Elisabeth A.; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P.; Timms, Andrew; Wener, Mark; Bamshad, Michael J.; Leal, Suzanne M.; Nickerson, Deborah A.; Anderson, Peter; Bacus, Tamara J.; Brower, Katherine; Buckingham, Kati J.; Chong, Jessica X.; Sánchez, Diana Cornejo; Davis, Colleen P.; Davis, Chayna J.; Frazar, Christian D.; Gomeztagle‐Burgess, Katherine; Gordon, William W.; Hurless, Jameson R.; Jarvik, Gail P.; Johanson, Eric; Kolar, J. Thomas; Marvin, Colby T.; Mcgee, Sean; Mcgoldrick, Daniel J.; Mekonnen, Betselote; Nielsen, Patrick M.; Patterson, Karynne; Radhakrishnan, Aparna; Richardson, Matthew A.; Roote, Gwendolin T.; Ryke, Erica L.; Schrauwen, Isabelle; Shively, Kathryn M.; Smith, Joshua D.; Tackett, Monica; Wang, Gao; Weiss, Jeffrey M.; Wheeler, Marsha M.; Yi, Qian; Zhang, Xiaohong; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; 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; Berg‐Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; 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; Chao, Hsiao‐Tuan; 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.; Dell'Angelica, Esteban C.; Dipple, Katrina; 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; Gahl, William A.; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden‐Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Jeffrey; Jayadev, Suman; Jean‐Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; 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; Maravilla, Kenneth; 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; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano‐Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; 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.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Tan, Amelia L.M.; 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; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee‐Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika W.; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Dipple, Katrina M.; Hediger, Matthias A.; Stergachis, Andrew B.
Annals of Clinical and Translational Neurology. June 2023, Vol. 10 Issue 6, p1046, 1053 p.
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