학술논문
'학술논문'
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1~10
Academic Journal
McConkie‐Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Spillmann, Rebecca C; Cope, Heidi; Tan, Queenie K‐G; Palmer, Christina GS; Hooper, Stephen R; Shashi, Vandana; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg‐Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Byers, Peter; Byrd, William E; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Sessions Cole, F; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G; Deardorff, Matthew; Dell'Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D; Draper, David D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Findley, Laurie C; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Glass, Ian; Godfrey, Rena A
Journal of Genetic Counseling. 31(1)
Academic Journal
Srivastava, Siddharth; Shaked, Hagar Mor; Gable, Kenneth; Gupta, Sita D; Pan, Xueyang; Somashekarappa, Niranjanakumari; Han, Gongshe; Mohassel, Payam; Gotkine, Marc; Doney, Elizabeth; Goldenberg, Paula; Tan, Queenie K G; Gong, Yi; Kleinstiver, Benjamin; Wishart, Brian; Cope, Heidi; Pires, Claudia Brito; Stutzman, Hannah; Spillmann, Rebecca C; Network, Undiagnosed Disease
Academic Journal
Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren; Wierzba, Jolanta; Strom, Tim M; Parenti, Ilaria; Kaiser, Frank J; Ehmke, Nadja; Schaaf, Christian P
Genetics in Medicine. 21(8)
Academic Journal
Tan, Queenie K-G; Cope, Heidi; Spillmann, Rebecca C; Stong, Nicholas; Jiang, Yong-Hui; McDonald, Marie T; Rothman, Jennifer A; Butler, Megan W; Frush, Donald P; Lachman, Ralph S; Lee, Brendan; Bacino, Carlos A; Bonner, Melanie J; McCall, Chad M; Pendse, Avani A; Walley, Nicole; Undiagnosed Diseases Network; Shashi, Vandana; Pena, Loren DM
Cold Spring Harbor molecular case studies. 4(5)
Academic Journal
Palmer, Christina GS; McConkie-Rosell, Allyn; Holm, Ingrid A; LeBlanc, Kimberly; Sinsheimer, Janet S; Briere, Lauren C; Dorrani, Naghmeh; Herzog, Matthew R; Lincoln, Sharyn; Schoch, Kelly; Spillmann, Rebecca C; Brokamp, Elly; Undiagnosed Diseases Network
Journal of genetic counseling. 27(5)
Academic Journal
Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham, John M; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Diseases, Program for Undiagnosed; Callens, Steven; Coucke, Paul; Hemelsoet, Dimitri; Terryn, Wim; Van Coster, Rudy; Network, Undiagnosed Diseases; Adams, David R; Alejandro, Mercedes E; Allard, Patrick; Azamian, Mahshid S; Bacino, Carlos A; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F; Beggs, Alan H; Behnam, Babak; Bican, Anna; Bick, David P; Birch, Camille L; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Briere, Lauren C; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Burrage, Lindsay C; Chen, Shan; Clark, Gary D; Coakley, Terra R; Cogan, Joy D; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; D’Souza, Precilla; Davids, Mariska; Dayal, Jyoti G; Dell’Angelica, Esteban C; Dhar, Shweta U; Dillon, Ani; Dipple, Katrina M; Donnell-Fink, Laurel A; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Ferreira, Carlos; Fogel, Brent L; Friedman, Noah D; Gahl, William A; Glanton, Emily; Godfrey, Rena A; Goldstein, David B; Gould, Sarah E; Gourdine, Jean-Philippe F; Groden, Catherine A
American Journal of Human Genetics. 103(2)
Academic Journal
Pena, Loren DM; Jiang, Yong-Hui; Schoch, Kelly; Spillmann, Rebecca C; Walley, Nicole; Stong, Nicholas; Rapisardo Horn, Sarah; Sullivan, Jennifer A; McConkie-Rosell, Allyn; Kansagra, Sujay; Smith, Edward C; El-Dairi, Mays; Bellet, Jane; Keels, Martha Ann; Jasien, Joan; Kranz, Peter G; Noel, Richard; Nagaraj, Shashi K; Lark, Robert K; Wechsler, Daniel SG; del Gaudio, Daniela; Leung, Marco L; Hendon, Laura G; Parker, Collette C; Jones, Kelly L; Goldstein, David B; Shashi, Vandana
Genetics in Medicine. 20(4)
Academic Journal
Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana; Grody, Wayne W; Strom, Samuel P; Vilain, Eric; Deignan, Joshua; Quintero-Rivera, Fabiola; Kantarci, Sibel; Mullegama, Sureni; Kang, Sung-Hae; Alejandro, Mercedes E; Bacino, Carlos A; Balasubramanyam, Ashok; Burrage, Lindsay C; Clark, Gary D; Craigen, William J; Dhar, Shweta U; Emrick, Lisa T; Graham, Brett H; Hanchard, Neil A; Jain, Mahim; Lalani, Seema R; Lee, Brendan H; Lewis, Richard A; Mashid, Azamian S; Moretti, Paolo M; Nicholas, Sarah K; Orange, Jordan S; Potocki, Lorraine; Scott, Daryl A; Tran, Alyssa A; Bellen, Hugo J; Yamamoto, Shinya; Eng, Christine M; Muzny, Donna M; Ward, Patricia A; Gropman, Andrea L; Jiang, Yong-hui; Pena, Loren DM; Spillmann, Rebecca C; Sullivan, Jennifer A; Walley, Nicole M; Beggs, Alan H; Briere, Lauren C; Cooper, Cynthia M; Donnell-Fink, Laurel A; Krieg, Elizabeth L; Krier, Joel B; Lincoln, Sharyn A
American Journal of Human Genetics. 100(2)
Academic Journal
Walley, Nicole M; Pena, Loren D M; Hooper, Stephen R; Cope, Heidi; Jiang, Yong-Hui; McConkie-Rosell, Allyn; Sanders, Camilla; Schoch, Kelly; Spillmann, Rebecca C; Strong, Kimberly; McCray, Alexa T; Mazur, Paul; Esteves, Cecilia; LeBlanc, Kimberly; Undiagnosed Diseases Network (CORPORATE AUTHOR); Wise, Anastasia L; Shashi, Vandana
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[AR] Spillmann, Rebecca C
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