학술논문
'학술논문'
에서 검색결과 67건 | 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
Stenton, Sarah L.; O'Leary, Melanie C.; Lemire, Gabrielle; VanNoy, Grace E.; DiTroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo
Human Genomics; 4/29/2024, Vol. 18 Issue 1, p1-25, 25p
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
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
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
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
Gofin, Yoel; Wang, Tianyun; Gillentine, Madelyn A.; Scott, Tiana M.; Berry, Aliska M.; Azamian, Mahshid S.; Genetti, Casie; Agrawal, Pankaj B.; Picker, Jonathan; Wojcik, Monica H.; Delgado, Mauricio R.; Lynch, Sally A.; Scherer, Stephen W.; Howe, Jennifer L.; Bacino, Carlos A.; DiTroia, Stephanie; VanNoy, Grace E.; O'Donnell‐Luria, Anne; Lalani, Seema R.; Graf, William D.
Human Mutation; Apr2022, Vol. 43 Issue 4, p461-470, 10p
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[AR] VanNoy, Grace E.
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