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'학술논문'
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Academic Journal
Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M; Mulligan, Meghan R; Bicknell, Louise S; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie S; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Baris Feldman, Hagit; McKee, Shane; Krapels, Ingrid P C; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; McConnell, Vivienne; Chassevent, Anna; Barañano, Kristin W; Shashi, Vandana; Sullivan, Jennifer A; Peron, Angela; Iascone, Maria; Canevini, Maria P; Friedman, Jennifer; Reyes, Iris A; Kierstein, Janell; Shen, Joseph J; Ahmed, Faria N; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G; Rousseau, Justine; Myers, Kenneth A; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M
Am J Hum Genet
American Journal of Human Genetics, vol 111, iss 7
American Journal of Human Genetics, vol 111, iss 7
Academic Journal
Margarita Dionysiou; Stavriani C. Makri; Shivani Ahlawat; Melike Guryildirim; Kristin W. Barañano; Mari L. Groves; Pedram Argani; Christine A. Pratilas
Frontiers in Neurology, Vol 15 (2024)
Academic Journal
Galosi, Serena; Edani, Ban H; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Daniëlle G M; Ellis, Colin A; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Barañano, Kristin W; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noëlle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E; Venkateswaran, Sunita; Wheeler, Patricia G; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F; Grabińska, Kariona A; Leuzzi, Vincenzo
Brain : a journal of neurology. 145(1):208-223
Book
In Swaiman's Pediatric Neurology Edition: Seventh Edition. 2026:607
Academic Journal
eNeurologicalSci, Vol 31, Iss , Pp 100456- (2023)
Academic Journal
Jeffrey Lambe; Olwen C. Murphy; Weiyi Mu; Krista Sondergaard Schatz; Kristin W. Barañano; Arun Venkatesan
Annals of Clinical and Translational Neurology, Vol 7, Iss 2, Pp 254-258 (2020)
Book
Swaiman's Pediatric Neurology. :e868-e884
Academic Journal
Beck, David B.; Basar, Mohammed A.; Asmar, Anthony J.; Thompson, Joyce; Oda, Hirotsugu; Uehara, Daniela T.; Saida, Ken; D’Souza, Precilla; Bodurtha, Joann; Mu, Weiyi; Barañano, Kristin W.; Miyake, Noriko; Wang, Raymond; Kempers, Marlies; Nishimura, Yutaka; Okada, Satoshi; Kosho, Tomoki; Dale, Ryan; Mitra, Apratim; Macnamara, Ellen; Matsumoto, Naomichi; Inazawa, Johi; Walkiewicz, Magdalena; Tifft, Cynthia J.; Aksentijevich, Ivona; Kastner, Daniel L.; Rocha, Pedro P.; Werner, Achim
Book
Gregory Scott Aaen; Nicholas S. Abend; Laura Ann Adang; Amina Ahmed; Ayse Akcan Arikan; Kimberly A. Aldinger; Elizabeth Alva; Kimberly Amburgey; Catherine Amlie-Lefond; Susan Apkon; Bhooma Aravamuthan; Thaís Armangué; Ravindra Arya; Stephen Ashwal; Samieh Askari; Erika Fullwood Augustine; Paul Avan; Robert A. Avery; Erika J.T. Axeen; Brenda Banwell; Kristin W. Barañano; Matthew J. Barkovich; Ute Katharina Bartels; Ori Barzilai; Beatrice Battistini; David R. Bearden; Liat Ben-Sira; Timothy J. Bernard; Elizabeth Berry-Kravis; Lauren A. Beslow; Joanna S. Blackburn; Beatrice Bocca; Varina Louise Boerwinkle; Jeffrey Bolton; Sonia Lomeli Bonifacio; Daniel J. Bonthius; Glendaliz Bosques; Brian R. Branchford; John F. Brandsema; Kathryn M. Brennan; J. Nicholas Brenton; Laura Brickman; Christina Briscoe Abath; Jordan Broman-Fulks; Audrey C. Brumback; Jeffrey Buchhalter; Carsten G. Bönnemann; Daniel G. Calame; Carol S. Camfield; Peter R. Camfield; Evelina Carapancea; Gemma Carvill; Diana Castro; Dalit Cayam-Rand; Catherine A. Chapin; Vann Chau; Priscilla Chee; Wei-Liang Chen; Claudia A. Chiriboga; Michelle Y. Chiu; Yoon-Jae Cho; Samyami Sangeeta Chowdhury; Rhandi Christensen; Maria Roberta Cilio; Robin Dawn Clark; Kelly J. Clemens; Bruce H. Cohen; Ronald D. Cohn; Anne M. Connolly; Susan Conrad; Shlomi Constantini; John R. Crawford; Thomas O. Crawford; Russell C. Dale; Louis T. Dang; Keerti L. Dantuluri; Basil T. Darras; Yosef M. Dastagirzada; Matthew A. Deardorff; Jeremy K. Deisch; Paul Deltenre; Jay Desai; Nataliya Di Donato; William B. Dobyns; Dan Doherty; Elizabeth Donner; Lev Dorfman; James J. Dowling; Elizabeth S. Duke; Tina Duong; Melanie Ehrler; Erik Axel Eklund; Leon G. Epstein; Jennifer Erklauer; Iris Etzion; Raquel Farias-Moeller; Ali S. Fatemi; Darcy L. Fehlings; Peter A. Ferrazzano; Richard S. Finkel; Paul Graham Fisher; Amy Fleischman; Adriana Fonseca; Nicholas Foreman; Catherine A. Forestell; Kristine Fortin; Israel Franco; Chiara Frazzoli; Joseph M. Furman; Catherine Garel; Alfred L. George; Elizabeth George; Jennifer V. Gettings; Donald L. Gilbert; Christopher C. Giza; Hannah C. Glass; Tracy A. Glauser; Joseph Glykys; Amy C. Goldstein; Grace Yoonheekim Gombolay; Hernan D. Gonorazky; Howard P. Goodkin; Gabrielle T. Goodlin; Mark P. Gorman; William D. Graf; John M. Graham; Andrea L. Gropman; Varda Gross-Tsur; Richard Guy Grundy; Nalin Gupta; Samson Gwer; Aristides Hadjinicolaou; M.J. Harbert; Chellamani Harini; Dana Harrar; Andrea M. Harriott; Jason Hauptman; Ingo Helbig; Andrew D. Hershey; Gregory L. Holmes; Gabriella Ana Horvath; David T. Hsieh; Eugene I. Hwang; Mohammed Omar Iqbal; Marin Jacobwitz; Anna C. Jansen; Shafali S. Jeste; Lori C. Jordan; Sucheta M. Joshi; Sergiusz Jozwiak; Marielle A. Kabbouche; Joanne Kacperski; Madeline D. Kahan; Gwendoline Quetoline Kandawasvika; Matthias A. Karajannis; Eliot S. 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Rosati; Danya Rosen; Tom Rosenberg; Elizabeth Rosenfeld; M. Elizabeth Ross; Francis Rossignol; Thomas Rossor; Alexander Rotenberg; Louise Rudden; Sarah McKeown Ruggiero; Jeffrey B. Russ; Jennifer L. Ryan; Umar Abba Sabo; Arushi Gahlot Saini; Jay A. Salpekar; Pauline Samia; Pedro A. Sanchez-Lara; Tristan T. Sands; Kumar Sannagowdara; Mariko Sato; Mark S. Scher; Robert Kabuye Sebunya; Alfred Pokmeng See; Michael M. Segal; Syndi Seinfeld; Duygu Selcen; Laurie E. Seltzer; Margaret Semrud-Clikeman; Kuntal Sen; Asim Shahid; Dennis W.W. Shaw; Bennett A. Shaywitz; Sally E. Shaywitz; Oleg A. Shchelochkov; Beth Rosen Sheidley; Renée A. Shellhaas; Elliott H. Sherr; Michael I. Shevell; Shlomo Shinnar; Ben Shofty; Michael E. Shy; Laura Silveira-Moriyama; Wendy G. Silver; Harvey S. Singer; Nilika Singhal; Craig M. Smith; Edward R. Smith; Lacey Smith; Ambreen Sonawalla; Janet S. Soul; Siddharth Srivastava; Carl E. Stafstrom; Robert Steinfeld; Scellig Stone; Coral M. Stredny; Joseph Sullivan; Charlotte J. Sumner; Lisa R. Sun; Sundes Kazmir; William O. Tatum; Stacey Tay; Jeffrey R. Tenney; Elin Thordardottir; Laura Tochen; Itay Tokatly Latzer; Haluk Topalo; Laura Tormoehlen; Edwin Trevathan; Chahnez Charfi Triki; Hannah Tully; Sinan O. Turnacioglu; Nicole J. Ullrich; David K. Urion; Margot van de Bor; Clara van Karnebeek; Heather Van Mater; Adeline Vanderver; Jennifer Vermilion; Manuel A. Viamonte; Jorge Vidaurre; Kollencheri Puthenveettil Vinayan; Nicholas Alexander Vitanza; Michael von Rhein; Mark S. Wainwright; Laurence Walsh; Michael F. Wangler; Debra E. Weese-Mayer; Elizabeth M. Wells; Harry Thomas Whelan; James W. Wheless; Josine C.C. Widdershoven; Sara E. Williams; Jo M. Wilmshurst; Kimberly Wiltrout; Sarah E. Wing; Elaine C. Wirrell; Jeffrey H. Wisoff; Nicole I. Wolf; Matthew D. Wood; F. Virginia Wright; Michele L. Yang; Uluç Yis¸; Esther Yoon; Christopher J. Yuskaitis; Nicole E. Zahka; Julie M. Ziobro; Huda Y. Zoghbi; Jill Glennis Zwicker
Swaiman's Pediatric Neurology ISBN: 9780443109447
Academic Journal
Ashish R Deshwar; Cheryl Cytrynbaum; Harsha Murthy; Jessica Zon; David Chitayat; Jonathan Volpatti; Ruth Newbury-Ecob; Sian Ellard; Hana Lango Allen; Emily P Yu; Ramil Noche; Suzi Walker; Stephen W Scherer; Sonal Mahida; Christopher M Elitt; Gaël Nicolas; Alice Goldenberg; Pascale Saugier-Veber; Francois Lecoquierre; Ivana Dabaj; Hannah Meddaugh; Michael Marble; Kim M Keppler-Noreuil; Lucy Drayson; Kristin W Barañano; Anna Chassevent; Katie Agre; Pascaline Létard; Frederic Bilan; Gwenaël Le Guyader; Annie Laquerrière; Keri Ramsey; Lindsay Henderson; Lauren Brady; Mark Tarnopolsky; Matthew Bainbridge; Jennifer Friedman; Yline Capri; Larissa Athayde; Fernando Kok; Juliana Gurgel-Giannetti; Luiza L P Ramos; Susan Blaser; James J Dowling; Rosanna Weksberg
Brain. 146:2285-2297
Academic Journal
Guillen Sacoto, Maria J. ; Tchasovnikarova, Iva A. ; Torti, Erin ; Forster, Cara ; Andrew, E. Hallie ; Anselm, Irina ; Baranano, Kristin W. ; Briere, Lauren C. ; Cohen, Julie S. ; Craigen, William J. ; Cytrynbaum, Cheryl ; Ekhilevitch, Nina ; Elrick, Matthew J. ; Fatemi, Ali ; Fraser, Jamie L. ; Gallagher, Renata C. ; Guerin, Andrea ; Haynes, Devon ; High, Frances A. ; Inglese, Cara N. ; Kiss, Courtney ; Koenig, Mary Kay ; Krier, Joel ; Lindstrom, Kristin ; Marble, Michael ; Meddaugh, Hannah ; Moran, Ellen S. ; Morel, Chantal F. ; Mu, Weiyi ; Muller, Eric A., II ; Nance, Jessica ; Natowicz, Marvin R. ; Numis, Adam L. ; Ostrem, Bridget ; Pappas, John ; Stafstrom, Carl E. ; Streff, Haley ; Sweetser, David A. ; Szybowska, Marta ; Walker, Melissa A. ; Wang, Wei ; Weiss, Karin ; Weksberg, Rosanna ; Wheeler, Patricia G. ; Yoon, Grace ; Kingston, Robert E. ; Juusola, Jane
In The American Journal of Human Genetics 6 August 2020 107(2):352-363
Academic Journal
Tunovic, Sanjin; Barañano, Kristin W.; Barkovich, James A.; Strober, Jonathan B.; Jamal, Leila; Slavotinek, Anne M.
American Journal Of Medical Genetics - A. Nov 01, 2015 167(11):2767-2776
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome
Academic Journal
Journal of Child Neurology. 37:390-396
Academic Journal
Current Treatment Options in Neurology. November 2008 10(6):410-419
Academic Journal
Yabumoto, Megan; Kianmahd, Jessica; Singh, Meghna; Palafox, Maria F.; Wei, Angela; Elliott, Kathryn; Goodloe, Dana H.; Dean, S. Joy; Gooch, Catherine; Murray, Brianna K.; Swartz, Erin; Vergano, Samantha A. Schrier; Towne, Meghan C.; Nugent, Kimberly; Roeder, Elizabeth R.; Kresge, Christina; Pletcher, Beth A.; Grand, Katheryn; Graham, John M., Jr.; Gates, Ryan; Gomez-Ospina, Natalia; Ramanathan, Subhadra; Clark, Robin Dawn; Glaser, Kimberly; Benke, Paul J.; Cohen, Julie S.; Fatemi, Ali; Mu, Weiyi; Baranano, Kristin W.; Madden, Jill A.; Gubbels, Cynthia S.; Yu, Timothy W.; Agrawal, Pankaj B.; Chambers, Mary-Kathryn; Phornphutkul, Chanika; Pugh, John A.; Tauber, Kate A.; Azova, Svetlana; Smith, Jessica R.; O'Donnell-Luria, Anne; Medsker, Hannah; Srivastava, Siddharth; Krakow, Deborah; Schweitzer, Daniela N.; Arboleda, Valerie A.
Academic Journal
Emma M Jenkinson; Mathieu P Rodero; Paul R Kasher; Carolina Uggenti; Anthony Oojageer; Laurence C Goosey; Yoann Rose; Christopher J Kershaw; Jill E Urquhart; Simon G Williams; Sanjeev S Bhaskar; James O'Sullivan; Gabriela M Baerlocher; Monika Haubitz; Geraldine Aubert; Kristin W Barañano; Angela J Barnicoat; Roberta Battini; Andrea Berger; Edward M Blair; Janice E Brunstrom-Hernandez; Johannes A Buckard; David M Cassiman; Rosaline Caumes; Duccio M Cordelli; Liesbeth M De Waele; Alexander J Fay; Patrick Ferreira; Nicholas A Fletcher; Alan E Fryer; Himanshu Goel; Cheryl A Hemingway; Marco Henneke; Imelda Hughes; Rosalind J Jefferson; Ram Kumar; Lieven Lagae; Pierre G Landrieu; Charles M Lourenço; Timothy J Malpas; Sarju G Mehta; Imke Metz; Sakkubai Naidu; Katrin Õunap; Axel Panzer; Prab Prabhakar; Gerardine Quaghebeur; Raphael Schiffmann; Elliott H Sherr; Kanaga R Sinnathuray; Calvin Soh; Helen S Stewart; John Stone; Hilde Van Esch; Christine E G Van Mol; Adeline Vanderver; Emma L Wakeling; Andrea Whitney; Graham D Pavitt; Sam Griffiths-Jones; Gillian I Rice; Patrick Revy; Marjo S van der Knaap; John H Livingston; Raymond T O'Keefe; Yanick J Crow
Nat Genet
Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Baranano, KW , Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenco, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Ounap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H S, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths-Jones, S, Rice, G I, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R T & Crow, Y J 2016, 'Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts', Nature Genetics, vol. 48, no. 10, pp. 1185-1192. https://doi.org/10.1038/ng.3661
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y, Urquhart, J, Williams, S, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G,Barañano , K W , Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G, Griffiths-Jones, S, Rice, G, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R, Crow, Y & Kershaw, C 2016, 'Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts', Nature Genetics, vol. 48, no. 10, pp. 1185–1192. https://doi.org/10.1038/ng.3661
Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Baranano, K
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y, Urquhart, J, Williams, S, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G,
Academic Journal
David B. Beck; Mohammed A. Basar; Anthony J. Asmar; Joyce J. Thompson; Hirotsugu Oda; Daniela T. Uehara; Ken Saida; Sander Pajusalu; Inga Talvik; Precilla D’Souza; Joann Bodurtha; Weiyi Mu; Kristin W. Barañano; Noriko Miyake; Raymond Wang; Marlies Kempers; Tomoko Tamada; Yutaka Nishimura; Satoshi Okada; Tomoki Kosho; Ryan Dale; Apratim Mitra; Ellen Macnamara; Naomichi Matsumoto; Johji Inazawa; Magdalena Walkiewicz; Katrin Õunap; Cynthia J. Tifft; Ivona Aksentijevich; Daniel L. Kastner; Pedro P. Rocha; Achim Werner
Sci Adv
Science Advances, 7, 4
Science Advances, vol 7, iss 4
Science Advances, 7, 4
Science Advances, vol 7, iss 4
Academic Journal
Kodani, Andrew ; Kenny, Connor ; Lai, Abbe ; Gonzalez, Dilenny M. ; Stronge, Edward ; Sejourne, Gabrielle M. ; Isacco, Laura ; Partlow, Jennifer N. ; O’Donnell, Anne ; McWalter, Kirsty ; Byrne, Alicia B. ; Barkovich, A. James ; Yang, Edward ; Hill, R. Sean ; Gawlinski, Pawel ; Wiszniewski, Wojciech ; Cohen, Julie S. ; Fatemi, S. Ali ; Baranano, Kristin W. ; Sahin, Mustafa ; Vossler, David G. ; Yuskaitis, Christopher J. ; Walsh, Christopher A.
In Neuron 22 April 2020 106(2):246-255
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