학술논문
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'학술논문'
에서 검색결과 128건 | 목록
1~20
Academic Journal
Moufawad El Achkar, Christelle; Bergin, Ann; Bolton, Jeffrey; Ghosh, Partha; Harini, Chellamani; Libenson, Mark; Lieberman, David; Loddenkemper, Tobias; Olson, Heather; Patel, Archana; Pearl, Phillip L.; Pinto, Anna; Rotenberg, Alexander; Yuskaitis, Christopher; Srivastava, Siddharth ; Koh, Hyun Yong ; Smith, Lacey ; Poduri, Annapurna
In Pediatric Neurology August 2024 157:79-86
Academic Journal
Simmons, Roxanne ; Singhal, Nilika ; Sullivan, Joseph ; Shih, Tina ; Tihan, Tarik ; Poduri, Annapurna ; Smith, Lacey ; Yang, Edward
In Epilepsy & Behavior December 2023 149
Academic Journal
Haviland, Isabel ; Daniels, Carolyn I. ; Greene, Caitlin A. ; Drew, Jacqueline ; Love-Nichols, Jamie A. ; Swanson, Lindsay C. ; Smith, Lacey ; Nie, Duyu A. ; Benke, Timothy ; Sheidley, Beth R. ; Zhang, Bo ; Poduri, Annapurna ; Olson, Heather E.
In Pediatric Neurology January 2023 138:71-80
Academic Journal
Achkar, Christelle; Barkovich, James; Cao, Yang; Chelly, Jamel; DiStefano, Marina; Engle, Elizabeth; Evenson, Michael; Guerrini, Renzo; Hong, William; Koh, Hyunyong; Knight, Devon; Lai, Abbe; Lassiter, Rhonda; Lee, Yi-Shan; Marsh, Eric; Mefford, Heather C.; Miller, David T.; Mirzaa, Ghayda; Mochida, Ganesh; Pinsky, Rebecca; Poduri, Annapurna; Rodan, Lance H.; Patel, Mayher; Shain, Catherine; Smith, Lacey; Soucy, Aubrie; Spencer, Sara; Walsh, Christopher A.; Yang, Edward; Yu, Timothy; Yuan, Bo; Yuskaitis, Christopher; El Achkar, Christelle Moufawad ; Barkovich, Anthony J. ; Yuskaitis, Christopher J.
In Genetics in Medicine November 2022 24(11):2240-2248
Academic Journal
Galer, Peter D. ; Ganesan, Shiva ; Lewis-Smith, David ; McKeown, Sarah E. ; Pendziwiat, Manuela ; Helbig, Katherine L. ; Ellis, Colin A. ; Rademacher, Annika ; Smith, Lacey ; Poduri, Annapurna ; Seiffert, Simone ; von Spiczak, Sarah ; Muhle, Hiltrud ; van Baalen, Andreas ; Thomas, Rhys H. ; Krause, Roland ; Weber, Yvonne ; Helbig, Ingo
In The American Journal of Human Genetics 1 October 2020 107(4):683-697
Academic Journal
Kurganov, Erkin; Cui, Lei; Budnik, Nikita; Chen, Siwei; Olivares, Erick; Baez-Nieto, David; Asan, Ahmet S.; Lusk, Laina; Smith, Lacey; Jo, Sooyeon; Marques, Diogo; Nehme, Ralda; Mullegama, Sureni V.; Lindy, Amanda; George Jr., Alfred L.; Poduri, Annapurna; Helbig, Ingo; Daly, Mark; Pan, Jen Q.
Science Translational Medicine; 12/10/2025, Vol. 17 Issue 828, p1-19, 19p
Academic Journal
Current Reviews in Musculoskeletal Medicine; Dec2025, Vol. 18 Issue 12, p568-576, 9p
Academic Journal
Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna; Klein, Karl Martin; Koeleman, Bobby P.C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, Sek Won; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter; Helbig, Ingo ; Lopez-Hernandez, Tania ; Shor, Oded ; Galer, Peter ; Ganesan, Shiva ; Pendziwiat, Manuela ; Rademacher, Annika ; Ellis, Colin A. ; Hümpfer, Nadja ; Schwarz, Niklas ; Seiffert, Simone ; Peeden, Joseph ; Shen, Joseph ; Štěrbová, Katalin ; Hammer, Trine Bjørg ; Møller, Rikke S. ; Shinde, Deepali N. ; Tang, Sha ; Smith, Lacey ; Poduri, Annapurna ; Krause, Roland ; Benninger, Felix ; Helbig, Katherine L. ; Haucke, Volker ; Weber, Yvonne G.
In The American Journal of Human Genetics 6 June 2019 104(6):1060-1072
Academic Journal
Straub, Jonas ; Konrad, Enrico D.H. ; Grüner, Johanna ; Toutain, Annick ; Bok, Levinus A. ; Cho, Megan T. ; Crawford, Heather P. ; Dubbs, Holly ; Douglas, Ganka ; Jobling, Rebekah ; Johnson, Diana ; Krock, Bryan ; Mikati, Mohamad A. ; Nesbitt, Addie ; Nicolai, Joost ; Phillips, Meredith ; Poduri, Annapurna ; Ortiz-Gonzalez, Xilma R. ; Powis, Zöe ; Santani, Avni ; Smith, Lacey ; Stegmann, Alexander P.A. ; Stumpel, Constance ; Vreeburg, Maaike ; Fliedner, Anna ; Gregor, Anne ; Sticht, Heinrich ; Zweier, Christiane
In The American Journal of Human Genetics 4 January 2018 102(1):44-57
Book
In Swaiman's Pediatric Neurology Edition: Seventh Edition. 2026:422-428
Academic Journal
Brünger, Tobias; Ivaniuk, Alina; Pérez-Palma, Eduardo; Montanucci, Ludovica; Cohen, Stacey; Smith, Lacey; Parthasarathy, Shridhar; Helbig, Ingo; Nothnagel, Michael; May, Patrick; Lal, Dennis
Genome Biology; 7/7/2025, Vol. 26 Issue 1, p1-20, 20p
Academic Journal
D'Gama, Alissa M.; Shao, Wanqing; Smith, Lacey; Koh, Hyun Yong; Davis, Maya; Koh, Julia; Oby, Brandon T.; Urzua, Cesar I.; Sheidley, Beth Rosen; Rockowitz, Shira; Poduri, Annapurna
JAMA Neurology; Dec2024, Vol. 81 Issue 12, p1316-1318, 3p
Academic Journal
Daniels, Carolyn; Greene, Caitlin; Smith, Lacey; Pestana‐Knight, Elia; Demarest, Scott; Zhang, Bo; Benke, Timothy A.; Poduri, Annapurna; Olson, Heather E.; Swanson, Lindsay; Love‐Nichols, Jamie; El Achkar, Christelle Moufawad; Witt, Rochelle M; Kaufmann, Walter E; Lieberman, David N; Julich, Kristina; Srivastava, Siddharth; Nie, Duyu A; Zhang, Xiaoming; Moosa, Ahsan N
Academic Journal
Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja; Klöckner, Chiara; Platzer, Konrad; Faivre, Laurence Olivier; Weigand, Heike; Dentici, Maria L.; Tartaglia, Marco; Niceta, Marcello; Alfieri, Paolo; Srivastava, Siddharth; Coulter, David; Smith, Lacey; Vinorum, Kristin; Cappuccio, Gerarda; Brunetti‐Pierri, Nicola; Torun, Deniz; Arslan, Mutluay; Lauridsen, Mathilde F.
Academic Journal
Smith, Lacey; Malinowski, Jennifer; Ceulemans, Sophia; Peck, Katlin; Walton, Nephi; Sheidley, Beth Rosen; Lippa, Natalie
Journal of Genetic Counseling; Apr2023, Vol. 32 Issue 2, p266-280, 15p
Academic Journal
Academic Journal
D’Gama, Alissa M.; Shao, Wanqing; Smith, Lacey; Koh, Hyun Yong; Davis, Maya; Koh, Julia; Oby, Brandon T.; Urzua, Cesar I.; Sheidley, Beth R.; Rockowitz, Shira; Poduri, Annapurna
medRxiv
Academic Journal
Achkar, Christelle M.; Harrer, Merle; Smith, Lacey; Kelly, McKenna; Iqbal, Sumaiya; Maljevic, Snezana; Niturad, Cristina E.; Vissers, Lisenka E. L. M.; Poduri, Annapurna; Yang, Edward; Lal, Dennis; Lerche, Holger; Møller, Rikke S.; Olson, Heather E.; El Achkar, Christelle M; GABRB2 Working Group (CORPORATE AUTHOR)
Academic Journal
Ganesan S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Deptartment of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; School of Biomedical Engineering, Science and Health Systems, Drexel University, Philadelphia, PA, United States.; Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Deptartment of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Parthasarathy S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Deptartment of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Galer PD; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Deptartment of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; University of Pennsylvania, Center for Neuroengineering and Therapeutics, Philadelphia, PA, United States.; Lewis-Smith D; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Deptartment of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Neurology, Beaumont Hospital, Dublin, Ireland.; FutureNeuro, the Research Ireland Centre for Translational Brain Science; RCSI University of Medicine and Health Sciences, Dublin, Ireland.; McSalley I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Deptartment of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Cohen SR; Division of Translational Medicine and Human Genetics, The Hospital of the University of Pennsylvania, Philadelphia, PA, United States.; Genetic Diagnostic Laboratory, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, United States.; Lusk L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Deptartment of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Prentice AJ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Deptartment of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; McKee JL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Deptartment of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Pendziwiat M; Institute of Clinical Molecular Biology , Christian-Albrechts-University of Kiel, Kiel, Germany.; Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, United States.; Weber Y; Department of Epileptology and Neurology, RWTH University of Aachen, 52074 Aachen, Germany.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, United States.; Poduri A; National Institute of Neurological Disorders and Stroke.; F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA, United States.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital - Harvard Medical School, Boston, MA, United States.; Department of Neurology, Harvard Medical School, Boston, MA, United States.; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, United States.; Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Deptartment of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.
Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Academic Journal
Xian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C; Ellis, Colin A; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; Veiga De Goes, Fernanda; El Achkar, Christelle M; Doering, Jan Henje; Furia, Francesca; García-Cazorla, Ángeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; Van Berkel, Annemiek; Van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Son Rigby, Charlene; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Møller, Rikke S; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo
Brain
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, 'Assessing the landscape of STXBP1-related disorders in 534 individuals', Brain, vol. 145, no. 5, pp. 1668-1683. https://doi.org/10.1093/brain/awab327
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, 'Assessing the landscape of STXBP1-related disorders in 534 individuals', Brain, vol. 145, no. 5, pp. 1668-1683. https://doi.org/10.1093/brain/awab327
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