학술논문
'학술논문'
에서 검색결과 63건 | 목록
1~10
Academic Journal
Serrano, Jillian G.; O'Leary, Melanie; VanNoy, Grace E.; Mangilog, Brian E.; Holm, Ingrid A.; Fraiman, Yarden S.; Rehm, Heidi L.; O'Donnell-Luria, Anne; Wojcik, Monica H.
In Clinical Therapeutics August 2023 45(8):745-753
Academic Journal
Serey-Gaut, Margaux; Cortes, Marisol; Makrythanasis, Periklis; Suri, Mohnish; Taylor, Alexander M.R.; Sullivan, Jennifer A.; Asleh, Ayat N.; Mitra, Jaba; Dar, Mohamad A.; McNamara, Amy; Shashi, Vandana; Dugan, Sarah; Song, Xiaofei; Rosenfeld, Jill A.; Cabrol, Christelle; Iwaszkiewicz, Justyna; Zoete, Vincent; Pehlivan, Davut; Akdemir, Zeynep Coban; Roeder, Elizabeth R.; Littlejohn, Rebecca Okashah; Dibra, Harpreet K.; Byrd, Philip J.; Stewart, Grant S.; Geckinli, Bilgen B.; Posey, Jennifer; Westman, Rachel; Jungbluth, Chelsy; Eason, Jacqueline; Sachdev, Rani; Evans, Carey-Anne; Lemire, Gabrielle; VanNoy, Grace E.; O’Donnell-Luria, Anne; Mau-Them, Frédéric Tran; Juven, Aurélien; Piard, Juliette; Nixon, Cheng Yee; Zhu, Ying; Ha, Taekjip; Buckley, Michael F.; Thauvin, Christel; Essien Umanah, George K.; Van Maldergem, Lionel; Lupski, James R.; Roscioli, Tony; Dawson, Valina L.; Dawson, Ted M.; Antonarakis, Stylianos E.
In The American Journal of Human Genetics 2 March 2023 110(3):499-515
Academic Journal
Agrawal, Pankaj B.; Ceyhan-Birsoy, Ozge; Fayer, Shawn; Frankel, Leslie A.; Genetti, Casie A.; Gutierrez, Amanda M.; Harden, Maegan; Holm, Ingrid A.; Krier, Joel B.; Lebo, Matthew S.; Machini, Kalotina; McGuire, Amy L.; Naik, Medha; Nguyen, Tiffany T.; Pereira, Stacey; Ramanathan, Vivek; Rehm, Heidi L.; Roberts, Amy; Robinson, Jill O.; Roumiantsev, Sergei; Schwartz, Talia S.; Truong, Tina K.; VanNoy, Grace E.; Waisbren, Susan E.; Yu, Timothy W.; Mackay, Zoë P.; Dukhovny, Dmitry; Phillips, Kathryn A.; Beggs, Alan H.; Green, Robert C.; Parad, Richard B.; Christensen, Kurt D.
In Value in Health May 2020 23(5):559-565
Academic Journal
VanNoy, Grace E.; Wojcik, Monica H.; Genetti, Casie A.; Mullen, Thomas E.; Agrawal, Pankaj B.; Stein, Deborah R.
In Kidney International Reports August 2020 5(8):1316-1319
DNM1L Variant Presenting as Adolescent-Onset Sensory Neuronopathy, Spasticity, Dystonia, and Ataxia.
Academic Journal
Wang, Alexander S.; Lemire, Gabrielle; VanNoy, Grace E.; Austin-Tse, Christina; O'Donnell-Luria, Anne; Kilbane, Camilla
Journal of Pediatric Neurology; Dec2023, Vol. 21 Issue 6, p475-478, 4p
Academic Journal
Therapeutic Advances in Rare Disease; Jan-Dec2023, Vol. 4, p1-18, 18p
Academic Journal
Keehan, Laura; Haviland, Isabel; Gofin, Yoel; Swanson, Lindsay C.; El Achkar, Christelle Moufawad; Schreiber, John; VanNoy, Grace E.; O'Heir, Emily; O'Donnell‐Luria, Anne; Lewis, Richard Alan; Magoulas, Pilar; Tran, Alyssa; Azamian, Mahshid S.; Chao, Hsiao‐Tuan; Pham, Lisa; Samaco, Rodney C.; Elsea, Sarah; Thorpe, Erin; Kesari, Akanchha; Perry, Denise
American Journal of Medical Genetics. Part A; Dec2022, Vol. 188 Issue 12, p3516-3524, 9p
Academic Journal
Byrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGregor, Lesley; Mittal, Namita; Moghimi, Ali; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui; Brd Inst Ctr Mendelian Genomics; Genomic Autopsy Study Res Network
Academic Journal
Pais, Lynn S.; Snow, Hana; Weisburd, Ben; Zhang, Shifa; Baxter, Samantha M.; DiTroia, Stephanie; O'Heir, Emily; England, Eleina; Chao, Katherine R.; Lemire, Gabrielle; Osei‐Owusu, Ikeoluwa; VanNoy, Grace E.; Wilson, Michael; Nguyen, Kevin; Arachchi, Harindra; Phu, William; Solomonson, Matthew; Mano, Stacy; O'Leary, Melanie; Lovgren, Alysia
Human Mutation; Jun2022, Vol. 43 Issue 6, p698-707, 10p
Academic Journal
Duncan, Anna R.; Polovitskaya, Maya M.; Gaitán-Peñas, Héctor; Bertelli, Sara; VanNoy, Grace E.; Grant, Patricia E.; O'Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M.; Agolini, Emanuele; Madden, Jill A.; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad
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[AR] VanNoy, Grace E.
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