학술논문
'학술논문'
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1~10
Academic Journal
Mancini, Grazia M.S.; Smits, Daphne J.; Dekker, Jordy; Schot, Rachel; de Wit, Marie Claire Y.; Lequin, Maarten H.; Dremmen, Marjolein; Brooks, Alice S.; van Ham, Tjakko; Verheijen, Frans W.; Fornerod, Maarten; Dobyns, William B.; Wilke, Martina
In European Journal of Paediatric Neurology November 2021 35:27-34
Academic Journal
In Surgical Clinics of North America December 2018 98(6):1185-1200
Academic Journal
Alves, C. A. P. F.; Sidpra, J.; Manteghinejad, A.; Sudhakar, S.; Massey, F. V.; Aldinger, K. A.; Haldipur, P.; Lucato, L. T.; Ferraciolli, S. F.; Teixeira, S. R.; Oztekin, O.; Bhattacharya, D.; Taranath, A.; Prabhu, S. P.; Mirsky, D. M.; Andronikou, S.; Millen, K. J.; Barkovich, A. J.; Boltshauser, E.; Dobyns, W. B.; Barkovich, M. J.; Whitehead, M. T.; Mankad, K.
Academic Journal
Valente, E M; Brancat, F; Silhavy, J L; Castori, M; March, S E; Barrano, G; Bertini, E; Boltshauser, E; Zaki, M S; Abdel-Aleem, A; Abdel-Salam, GMH; Bellacchlo, E; Battini, R; Cruse, R P; Dobyns, W B; Krishnamoorthy, K S; Lagier-Tourenne, C; Magee, A; Pascual-Castroviejo, I; Salpietro, C D; Sarco, D; Dallapiccola, B; Gleeson, J G
Annals of Neurology. 59(3)
Academic Journal
A. Adam; J. Robison; J. Lu; R. Jose; N. Badran; T. Vivas-Buitrago; D. Rigamonti; A. Sattar; O. Omoush; M. Hammad; M. Dawood; M. Maghaslah; T. Belcher; K. Carson; J. Hoffberger; I. Jusué Torres; S. Foley; S. Yasar; Q. A. Thai; J. Wemmer; P. Klinge; L. Al-Mutawa; H. Al-Ghamdi; K. A. Carson; M. Asgari; D. de Zélicourt; V. Kurtcuoglu; S. Garnotel; S. Salmon; O. Balédent; A. Lokossou; G. Page; L. Balardy; Z. Czosnyka; P. Payoux; E. A. Schmidt; M. Zitoun; M. A. Sevestre; N. Alperin; I. Baudracco; C. Craven; S. Matloob; S. Thompson; P. Haylock Vize; L. Thorne; L. D. Watkins; A. K. Toma; Karl Bechter; A. C. Pong; L. Jugé; L. E. Bilston; S. Cheng; W. Bradley; F. Hakim; J. F. Ramón; M. F. Cárdenas; J. S. Davidson; C. García; D. González; S. Bermúdez; N. Useche; J. A. Mejía; P. Mayorga; F. Cruz; C. Martinez; M. C. Matiz; M. Vallejo; K. Ghotme; H. A. Soto; D. Riveros; A. Buitrago; M. Mora; L. Murcia; S. Bermudez; D. Cohen; D. Dasgupta; C. Curtis; L. Domínguez; A. J. Remolina; M. A. Grijalba; K. J. Whitehouse; R. J. Edwards; A. Eleftheriou; F. Lundin; K. N. Fountas; E. Z. Kapsalaki; H. F. Smisson; J. S. Robinson; M. J. Fritsch; W. Arouk; M. Garzon; M. Kang; K. Sandhu; D. Baghawatti; K. Aquilina; G. James; D. Thompson; M. Gehlen; M. Schmid Daners; A. Eklund; J. Malm; D. Gomez; M. Guerra; M. Jara; M. Flores; K. Vío; I. Moreno; S. Rodríguez; E. Ortega; E. M. Rodríguez; J. P. McAllister; M. M. Guerra; D. M. Morales; D. Sival; A. Jimenez; D. D. Limbrick; M. Ishikawa; S. Yamada; K. Yamamoto; A. Junkkari; A. Häyrinen; T. Rauramaa; H. Sintonen; O. Nerg; A. M. Koivisto; R. P. Roine; H. Viinamäki; H. Soininen; A. Luikku; J. E. Jääskeläinen; V. Leinonen; U. Kehler; O. Lilja-Lund; K. Kockum; E. M. Larsson; K. Riklund; L. Söderström; P. Hellström; K. Laurell; M. Kojoukhova; A. Sutela; R. Vanninen; K. I. Vanha; M. Timonen; J. Rummukainen; V. Korhonen; S. Helisalmi; E. Solje; A. M. Remes; J. Huovinen; J. Paananen; M. Hiltunen; M. Kurki; B. Martin; F. Loth; M. Luciano; A. J. Luikku; A. Hall; S. K. Herukka; J. Mattila; J. Lötjönen; I. Alafuzoff; I. Jurjević; M. Miyajima; M. Nakajima; H. Murai; T. Shin; D. Kawaguchi; C. Akiba; I. Ogino; K. Karagiozov; H Arai; R. C. Reis; M. J. Teixeira; C. G. Valêncio; D. da Vigua; L. Almeida-Lopes; M. W. Mancini; F. C. G. Pinto; R. H. Maykot; G. Calia; J. Tornai; S. S. S. Silvestre; G. Mendes; V. Sousa; B. Bezerra; P. Dutra; P. Modesto; M. F. Oliveira; C. E. Petitto; H. Pulhorn; A. Chandran; C. McMahon; A. S. Rao; M. Jumaly; D. Solomon; A. Moghekar; N. Relkin; M. Hamilton; H. Katzen; M. Williams; T. Bach; S. Zuspan; R. Holubkov; A. Rigamonti; G. Clemens; P. Sharkey; A. Sanyal; E. Sankey; K. Rigamonti; S. Naqvi; A. Hung; E. Schmidt; F. Ory-Magne; P. Gantet; A. Guenego; A. C. Januel; P. Tall; N. Fabre; L. Mahieu; C. Cognard; L. Gray; J. A. Buttner-Ennever; K. Takagi; K Onouchi; S. D. Thompson; L. D. Thorne; H. M. Tully; T. L. Wenger; W. A. Kukull; D. Doherty; W. B. Dobyns; D. Moran; S. Vakili; M. A. Patel; B. Elder; C. R. Goodwin; J. A. Crawford; M. V. Pletnikov; J. Xu; A. Blitz; D. A. Herzka; H. Guerrero-Cazares; A. Quiñones-Hinojosa; S. Mori; P. Saavedra; H. Treviño; K. Maitani; W. C. Ziai; V. Eslami; S. Nekoovaght-Tak; R. Dlugash; G. Yenokyan; N. McBee; D. F. Hanley
Fluids and Barriers of the CNS, Vol 14, Iss S1, Pp 1-21 (2017)
Academic Journal
Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata JM; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A
American Journal of Human Genetics. 108(1)
Academic Journal
Kanca, Oguz; Andrews, Jonathan C; Lee, Pei-Tseng; Patel, Chirag; Braddock, Stephen R; Slavotinek, Anne M; Cohen, Julie S; Gubbels, Cynthia S; Aldinger, Kimberly A; Williams, Judy; Indaram, Maanasa; Fatemi, Ali; Yu, Timothy W; Agrawal, Pankaj B; Vezina, Gilbert; Simons, Cas; Crawford, Joanna; Lau, C Christopher; Undiagnosed Diseases Network; Chung, Wendy K; Markello, Thomas C; Dobyns, William B; Adams, David R; Gahl, William A; Wangler, Michael F; Yamamoto, Shinya; Bellen, Hugo J; Malicdan, May Christine V
American journal of human genetics. 105(2)
Academic Journal
Tripathy, Ratna; Leca, Ines; van Dijk, Tessa; Weiss, Janneke; van Bon, Bregje W; Sergaki, Maria Christina; Gstrein, Thomas; Breuss, Martin; Tian, Guoling; Bahi-Buisson, Nadia; Paciorkowski, Alexander R; Pagnamenta, Alistair T; Wenninger-Weinzierl, Andrea; Martinez-Reza, Maria Fernanda; Landler, Lukas; Lise, Stefano; Taylor, Jenny C; Terrone, Gaetano; Vitiello, Giuseppina; Del Giudice, Ennio; Brunetti-Pierri, Nicola; D’Amico, Alessandra; Reymond, Alexandre; Voisin, Norine; Bernstein, Jonathan A; Farrelly, Ellyn; Kini, Usha; Leonard, Thomas A; Valence, Stéphanie; Burglen, Lydie; Armstrong, Linlea; Hiatt, Susan M; Cooper, Gregory M; Aldinger, Kimberly A; Dobyns, William B; Mirzaa, Ghayda; Pierson, Tyler Mark; Baas, Frank; Chelly, Jamel; Cowan, Nicholas J; Keays, David Anthony
Neuron. 100(6)
Academic Journal
Schaffer, Ashleigh E; Breuss, Martin W; Caglayan, Ahmet Okay; Al-Sanaa, Nouriya; Al-Abdulwahed, Hind Y; Kaymakçalan, Hande; Yılmaz, Cahide; Zaki, Maha S; Rosti, Rasim O; Copeland, Brett; Baek, Seung Tae; Musaev, Damir; Scott, Eric C; Ben-Omran, Tawfeg; Kariminejad, Ariana; Kayserili, Hulya; Mojahedi, Faezeh; Kara, Majdi; Cai, Na; Silhavy, Jennifer L; Elsharif, Seham; Fenercioglu, Elif; Barshop, Bruce A; Kara, Bulent; Wang, Rengang; Stanley, Valentina; James, Kiely N; Nachnani, Rahul; Kalur, Aneesha; Megahed, Hisham; Incecik, Faruk; Danda, Sumita; Alanay, Yasemin; Faqeih, Eissa; Melikishvili, Gia; Mansour, Lobna; Miller, Ian; Sukhudyan, Biayna; Chelly, Jamel; Dobyns, William B; Bilguvar, Kaya; Jamra, Rami Abou; Gunel, Murat; Gleeson, Joseph G
Nature genetics. 50(8)
Academic Journal
Adams Waldorf, Kristina M; Nelson, Branden R; Stencel-Baerenwald, Jennifer E; Studholme, Colin; Kapur, Raj P; Armistead, Blair; Walker, Christie L; Merillat, Sean; Vornhagen, Jay; Tisoncik-Go, Jennifer; Baldessari, Audrey; Coleman, Michelle; Dighe, Manjiri K; Shaw, Dennis WW; Roby, Justin A; Santana-Ufret, Veronica; Boldenow, Erica; Li, Junwei; Gao, Xiaohu; Davis, Michael A; Swanstrom, Jesica A; Jensen, Kara; Widman, Douglas G; Baric, Ralph S; Medwid, Joseph T; Hanley, Kathryn A; Ogle, Jason; Gough, G Michael; Lee, Wonsok; English, Chris; Durning, W McIntyre; Thiel, Jeff; Gatenby, Chris; Dewey, Elyse C; Fairgrieve, Marian R; Hodge, Rebecca D; Grant, Richard F; Kuller, LaRene; Dobyns, William B; Hevner, Robert F; Gale, Michael; Rajagopal, Lakshmi
Nature Medicine. 24(3)
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