학술논문
'학술논문'
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Academic Journal
In Molecular Genetics and Metabolism February 2024 141(2)
Academic Journal
Goker-Alpan, Ozlem; Burrow, Andrew; Enns, Gregory M.; Ficicioglu, Can; Kishnani, Priya S.; Ortiz, Damara; Prada, Carlos E.; Vats, Divya; Weinreb, Neal J.; Robinson, Ian; Pathak, Ravi R.; Wright, Ekaterina; Botha, Jaco; Wilcox, William R.
In Molecular Genetics and Metabolism February 2024 141(2)
Book
In Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis Edition: Eighth Edition. 2023:1-42
Albright, Deborah; Arnold, Georgianne; Arora, Gaurav; Balest, Arcangela L.; Baumhardt, Heather; Cannon, Glenn M.; Carrasco, Mary M.; Cassidy, Elaine; Chapman, Mary; Chaudhry, Rajeev; Chaves-Gnecco, Diego; Chi, David H.; Jin Chong, Hey; Cleves-Bayon, Catalina; Cooper, James D.; D’alesio, Alene; Davit, Alexander J., III; Debrunner, Mark; Dede, Ozgur; Eichman, Adelaide L.; Escobar, Oscar; Feldman, Heidi M.; Formeck, Cassandra L.; Gaesser, Jenna; Gehris, Robin P.; Glaser, Daniel; Goldstein, Jesse A.; Grunwaldt, Lorelei J.; Guerrero, Angela M.; Gurtunca, Nursen; Landeo Gutierrez, Jeremy S.; Koch, Ellen; Larkin, Allyson; Li, Xiaoxiao; Losee, Joseph E.; Madan-Khetarpal, Suneeta; Malek, Marcus; Mcclincy, Michael P.; Mccormick, Andrew A.; Michaels, Marian G.; Miyashita, Yosuke; Mollen, Kevin; Montano, Gerald T.; Moon, Mackenzie; Moritz, Michael L.; Narayanan, Srikala; Nischal, Ken K.; O’donnell, Brighid; Olgun, Z. Deniz; Ortiz, Damara; Poholek, Catherine H.; Richardson, Ward; Riley, Melissa M.; Rudolph, Jeffrey A.; Safier, Robert A.; Squires, Judy H.; Srinath, Arvind; Stevens, Erica L.; Tadros, Sameh; Tersak, Jean M.; Tobey, Allison; Torres, Orquidia A.; Trucco, Sara M.; Viswanathan, Pushpa; Weiner, Daniel J.; Williams, John V.; Witchel, Selma Feldman; Wolford, Jennifer E.; Woods, Katelyn; Zarit, Jennifer S.
In Zitelli and Davis’ Atlas of Pediatric Physical Diagnosis Edition: Eighth Edition. 2023:v-viii
Academic Journal
Burk, Caitlin M.; Coffey, Kara E.; Mace, Emily M.; Bostwick, Bret L.; Chinn, Ivan K.; Coban-Akdemir, Zeynep H.; Jhangiani, Shalini N.; Lupski, James R.; Ortiz, Damara; Barnum, Jessie L.; Allen, Steven W.; Robertson, Leanna-Marie; Orange, Jordan S.; Chong, Hey J.
In The Journal of Allergy and Clinical Immunology: In Practice March 2020 8(3):1103-1106
Academic Journal
Wallace, Eric L.; Goker-Alpan, Ozlem; Wilcox, William R.; Holida, Myrl; Bernat, John; Longo, Nicola; Linhart, Ales; Hughes, Derralynn A.; Hopkin, Robert J.; Tondel, Camilla; Langeveld, Mirjam; Giraldo, Pilar; Pisani, Antonio; Germain, Dominique Paul; Mehta, Ankit; Deegan, Patrick B.; Molnar, Maria Judit; Ortiz, Damara; Jovanovic, Ana; Muriello, Michael; Barshop, Bruce A.; Kimonis, Virginia; Vujkovac, Bojan; Nowak, Albina; Geberhiwot, Tarekegn; Kantola, Ilkka; Knoll, Jasmine; Waldek, Stephen; Nedd, Khan; Karaa, Amel; Brill-Almon, Einat; Alon, Sari; Chertkoff, Raul; Rocco, Rossana; Sakov, Anat; Warnock, David G.
Academic Journal
In Seizure: European Journal of Epilepsy August 2018 60:120-122
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
Yatsenko, Svetlana A.; Aarabi, Mahmoud; Hu, Jie; Surti, Urvashi; Ortiz, Damara; Madan‐Khetarpal, Suneeta; Saller, Devereux N.; Bellissimo, Daniel; Rajkovic, Aleksandar
Academic Journal
Feldt-Rasmussen, Ulla; Hughes, Derralynn; Sunder-Plassmann, Gere; Shankar, Suma; Nedd, Khan; Olivotto, Iacopo; Ortiz, Damara; Ohashi, Toya; Hamazaki, Takashi; Skuban, Nina; Yu, Julie; Barth, Jay A.; Nicholls, Kathleen
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