학술논문
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'학술논문'
에서 검색결과 1,117건 | 목록
1~20
Academic Journal
Jordan P. Lerner-Ellis; E. Magda Price; Shazia Subhani; Tiffany Boughtwood; Marie-Jo Brion; Augusto Rendon; Lene Cividanes; Jacob Gemmer; Danielle Ciofani; Nicolas Bertin; Seow Shih Wee; Stephen Robertson; Batoul Baz; Katrin Crameri; Sabine Österle; Valtteri Wirta; Per Sikora; Anna Lindstrand; Frédérique Nowak; Inês Amado; Nicola Jane Mulder; Andrea Ganna; Peter Goodhand; Lindsay D. Smith; Christian R. Marshall; Ma’n Zawati; Vincent Ferretti; Jacques L. Michaud; Dennis Bulman; Francois Bernier; Kym M. Boycott
Am J Hum Genet
Academic Journal
Gerber, Brittany; Currie, Gillian R.; Mosoiu, Alexander; Bernier, Alexander; Bernier, Francois P.; Boycott, Kym M.; Fiebelkorn, Guillermo; Hens, Kristien; Knoppers, Bartha M.; LeBlanc, Claire; Scherer, Stephen W.; Shaw, David; Viney, Chris; Virtanen, Carl; Benseler, Susanne M.; Yeung, Rae S. M.; Marshall, Deborah A.
Pediatric Rheumatology. 23(1)
Academic Journal
Stark, Jamie C.; Pipko, Neta; Liang, Yijing; Szuto, Anna; Tsoi, Chung Ting; Dickson, Megan A.; Yuki, Kyoko E.; Hou, Huayun; Scholten, Sydney; Pulsifer, Kenzie; Acker, Meryl; Laver, Meredith; Murthy, Harsha; Moran, Olivia M.; Bonnell, Emily; Liang, Nicole; Sidhu, Jashanpreet; Dupuis, Lucie; Seno, Mohammad M. Ghahramani; Chard, Marisa; Jobling, Rebekah K.; Cameron, Jessie; Chami, Rose; Inbar-Feigenberg, Michal; Wilson, Michael D.; Chitayat, David A.; Boycott, Kym M.; Kyriakopoulou, Lianna; Mendoza-Londono, Roberto; Marshall, Christian R.; Dowling, James J.; Costain, Gregory; Deshwar, Ashish R.
Genome Medicine. 17(1)
Academic Journal
MacDonald, Karen V.; Heidenreich, Sebastian; Krucien, Nicolas; Boycott, Kym M.; Bernier, Francois P.; Ryan, Mandy; Marshall, Deborah A.
The European Journal of Health Economics. :1-10
Academic Journal
Alexanne Cuillerier; Giulia F. Del Gobbo; Layla Mackay; Erika Wall; Madeline Couse; Laura M. McDonell; Mireille Cloutier; Matt C. Danzi; Jodi Warman‐Chardon; Pierre R. Bourque; Oksana Suchowersky; Alan Mears; Luke Seldenthuis; Wendy Mears; Laura Larrigan; Alexandre White‐Brown; Gerald Pfeffer; Dennis E. Bulman; David Dyment; Care4Rare Canada Consortium; Kym M. Boycott
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 12, Iss 6, Pp 1118-1125 (2025)
Annals of Clinical and Translational Neurology, Vol 12, Iss 6, Pp 1118-1125 (2025)
Academic Journal
Sebastian Ortiz De la Rosa; Valentina Rizzo; Robin‐Tobias Jauss; Tobias Bartolomaeus; Maria Escolar; Geneviève Bernard; Ralitza Gavrilova; Rebecca Ahrens‐Nicklas; Gabrielle Lemire; Kym M. Boycott; Saadet Mercimek‐Andrews; Paolo Prontera; Cinzia Costa; Bojana Rakic; Cornelius F. Boerkoel; Stephanie Huynh; Linda Huh; Elliott Sherr; Emanuela Argilli; Juan Darío Ortigoza‐Escobar; Didac Casas‐Alba; Tania Nunes; David A. Koolen; Konrad Platzer; Marianne S. Khinchi; Elena Gardella; Christina D. Fenger; Rikke S. Møller; Allan Bayat
Epilepsia
Epilepsia, 66, 7, pp. 2379-2390
De la Rosa, S O, Rizzo, V, Jauss, R T, Bartolomaeus, T, Escolar,M , Bernard, G, Gavrilova, R, Ahrens-Nicklas, R, Lemire, G, Boycott , K M , Mercimek-Andrews, S, Prontera, P, Costa, C, Rakic, B, Boerkoel, C F, Huynh, S, Huh, L, Sherr, E, Argilli, E, Ortigoza-Escobar, J D, Casas-Alba, D, Nunes, T, Koolen, D A, Platzer, K, Khinchi, M S, Gardella, E, Fenger, C D, Møller, R S & Bayat, A 2025, ' MBOAT7 encephalopathy : Characterizing the neurology and epileptology ', Epilepsia, vol. 66, no. 7, pp. 2379-2390 . https://doi.org/10.1111/epi.18376
Epilepsia, 66, 7, pp. 2379-2390
De la Rosa, S O, Rizzo, V, Jauss, R T, Bartolomaeus, T, Escolar,
Academic Journal
Raphael Carapito; Anne Molitor; Lisa Pavinato; Alaa Skeyni; Magalie Lambert; Angélique Pichot; Jiuhong Jiang; Perrine Spinnhirny; Lucie Zimmermann; Philippe Boucher; Clara W. T. Chung; Noha Elserafy; Edward M. Blair; Dong Li; Bhoj Elisabeth; Urania Kotzaeridou; Stephanie Karch; Matias Wagner; Roelineke J. Lunsing; Rolph Pfundt; Kym M. Boycott; Ange-Line Bruel; Frédéric Tran Mau-Them; Sébastien Moutton; Valerio Conti; Davide Mei; Valentina Cetica; Renzo Guerrini; Theresa Brunet; Patrick Rump; Alessandro Mussa; Alfredo Brusco; Gabrielle Lemire; Bert B. A. de Vries; Zhichao Miao; Bertrand Isidor; Seiamak Bahram
European Journal of Human Genetics. 33:966-972
Academic Journal
Iruzubieta, Pablo; Pellerin, David; Ashton, Catherine; Villa, Felipe; Renaud, Mathilde; Dicaire, Marie-Josée; Danzi, Matt C.; Aldecoa, Mayra; Mathieu, Jean; Massie, Rami; Chalk, Colin H.; Lafontaine, Anne-Louise; Evoy, François; Rioux, Marie-France; Brisson, Jean-Denis; Boycott, Kym M.; Houlden, Henry; Synofzik, Matthis; La Piana, Roberta; Zuchner, Stephan; Duquette, Antoine; Brais, Bernard
Journal of Neurology. 272(9)
Academic Journal
Michael P Mackley; Salma Shickh; Whiwon Lee; Abigail Hansen; Katharine Fooks; Lena Dolman; Iskra Peltekova; Taila Hartley; Susan Aucoin; Mélanie Beaulieu Bergeron; Liz Sinclair Bourque; Lucas Bronicki; Caitlin Chisholm; Gregory Costain; Meredith Curtis; Sonny Elango; Meredith K Gillespie; Edward J (Ted) Higginbotham; Emma Hitchcock; Lijia Huang; Jackie Hwang; Olga Jarinova; Rebekah Jobling; Jennifer Keating; Lynette Lau; Christian R Marshall; Diana Matviychuk; Roberto Mendoza-Londono; Olivia Moran; Jean McGowan-Jordan; Anna Pan; Myriam Poirier; E Magda Price; Kenzie Pulsifer; Sarah Sawyer; Sean Simko; Audrey Schaffer; Brian Smith; Venuja Sriretnakumar; Dimitri J Stavropoulos; Wilson Sung; Anna Szuto; Kate Tsiplova; Wendy J Ungar; Viji Venkataramanan; Vercancy Wu; Bowen Xiao; Syed Hassan Zaidi; Cherith Somerville; Martin J Somerville; Kym M Boycott; Robin Z Hayeems
Paediatrics & Child Health.
Academic Journal
Ediae, Grace U. ; White-Brown, Alexandre ; Chisholm, Caitlin ; Terekhov, Ivan ; Seymour, Jon ; Guo, Jeff ; Mitsakakis, Nicholas ; Sawyer, Sarah L. ; Boycott, Kym M.
In Genetics in Medicine November 2025 27(11)
Academic Journal
Koen Degeling; Toni Tagimacruz; Karen V. MacDonald; Trevor A. Seeger; Katharine Fooks; Viji Venkataramanan; Kym M. Boycott; Francois P. Bernier; Roberto Mendoza-Londono; Taila Hartley; Robin Z. Hayeems; Deborah A. Marshall
Applied Health Economics and Health Policy. 23:453-466
Academic Journal
Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
Academic Journal
Alexanne Cuillerier; Andrea Goodman; Chloe Lawrence; Noémie Villeneuve‐Cloutier; Christine M. Armour; Priya T. Bhola; Danielle K. Bourque; Melissa T. Carter; Joanna Lazier; Sarah L. Sawyer; Maha Saleh; Chitra Prasad; Victoria M. Siu; Kym M. Boycott; Taila Hartley; David A. Dyment; Tugce B. Balci
Clinical Genetics.
Academic Journal
Sunita Venkateswaran; Jean Michaud; Yoko Ito; Michael Geraghty; Evan C. Lewis; Benjamin Ellezam; Kym M. Boycott; David A. Dyment; Kristin D. Kernohan
Movement Disorders. 39:2102-2109
Academic Journal
Francois P. Bernier; Kym M. Boycott; Leanne M. Ward; Ian Stedman; Durhane Wong-Rieger; Svenja Espenhahn
Open Access Government. 48:166-167
Academic Journal
David Pellerin; Giulia F. Del Gobbo; Madeline Couse; Egor Dolzhenko; Sathiji K. Nageshwaran; Warren A. Cheung; Isaac R. L. Xu; Marie-Josée Dicaire; Guinevere Spurdens; Gabriel Matos-Rodrigues; Igor Stevanovski; Carolin K. Scriba; Adriana Rebelo; Virginie Roth; Marion Wandzel; Céline Bonnet; Catherine Ashton; Aman Agarwal; Cyril Peter; Dan Hasson; Nadejda M. Tsankova; Ken Dewar; Phillipa J. Lamont; Nigel G. Laing; Mathilde Renaud; Henry Houlden; Matthis Synofzik; Karen Usdin; Andre Nussenzweig; Marek Napierala; Zhao Chen; Hong Jiang; Ira W. Deveson; Gianina Ravenscroft; Schahram Akbarian; Michael A. Eberle; Kym M. Boycott; Tomi Pastinen; Emily Bateman; Chelsea Berngruber; Fabio Cunial; Colleen P. Davis; Huyen Dinh; Harsha Doddapaneni; Kim Doheny; Shannon Dugan-Perez; Tara Dutka; Evan E. Eichler; Philip Empey; Sarah Fazal; Chris Frazar; Kiran Garimella; Jessica Gearhart; Richard Gibbs; Jane Grimwood; Namrata Gupta; Salina K. Hall; Yi Han; William T. Harvey; Jess Hosea; PingHsun Hsieh; Jianhong Hu; Yongqing Huang; James Hwang; Michal Izydorczyk; Hyeonsoo Jeong; Ziad Khan; Sarah Kirkpatrick; Michelle Kokosinski; Sam Kovaka; Edibe Nehir Kurtas; Rebecca Lakatos; Emily LaPlante; Samuel K. Lee; Niall Lennon; Shawn Levy; Qiuhui Li; Lee Lichtenstein; Glennis A. Logsdon; Chris Lord; Ryan Lorig-Roach; Medhat Madmoud; Anant Maheshwari; Beth Marosy; Heer Mehta; Ginger Metcalf; David Mohr; Carolina Montano; Luke Morina; Yulia Mostovoy; Anjene Musick; Donna Muzny; Shane Neph; Justin Paschall; Karynne Patterson; Arianna Pionzio; David Porubsky; Nripesh Prasad; Allison N. Rozanski; Alba Sanchis-Juan; Michael C. Schatz; Sophie Schwartz; Alan Scott; Adriana Sedeno-Cortes; Fritz Sedlazeck; Tristan Shaffer; Hua Shen; Beri Shifaw; Joshua D. Smith; Natthapon Soisangwan; Andrew Stergachis; Hang Su; Michael Talkowski; Winston Timp; Vanesa Vee; Evie Wan; Yuanyuan Wang; George Weissenberger; Julie Wertz; Marsha Wheeler; Christopher Whelan; DongAhn Yoo; Shadi Zaheri; Xinchang Zheng; Yiming Zhu; Michelle Zilka; Bernard Brais; Stephan Zuchner; Matt C. Danzi
Nature genetics 56(7), 1366-1370 (2024). doi:10.1038/s41588-024-01808-5
Academic Journal
Boycott, Kym; Brudno, Michael; Bernier, Francois; van Karnebeek, Clara; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha; Lehman, Anna; Mostafavi, Sara; Hartley, Taila ; Acker, Meryl ; Fooks, Katharine ; Gillespie, Meredith K. ; Price, E. Magda ; Graham, Ian D. ; White-Brown, Alexandre ; MacKay, Layla ; Macdonald, Stella K. ; Brady, Lauren ; Hui, Angela Y. ; Andrews, Joseph D. ; Chowdhury, Ashfia ; Wall, Erika ; Soubry, Élisabeth ; Ediae, Grace U. ; Rojas, Samantha ; Assamad, Daniel ; Tarnopolsky, Mark ; Sawyer, Sarah L. ; Chisholm, Caitlin ; Lemire, Gabrielle ; Amburgey, Kimberly ; Lazier, Joanna ; Mendoza-Londono, Roberto ; Dowling, James J. ; Balci, Tugce B. ; Armour, Christine M. ; Bhola, Priya T. ; Costain, Gregory ; Dupuis, Lucie ; Carter, Melissa ; Badalato, Lauren ; Richer, Julie ; Boswell-Patterson, Christie ; Kannu, Peter ; Cordeiro, Dawn ; Warman-Chardon, Jodi ; Graham, Gail ; Siu, Victoria Mok ; Cytrynbaum, Cheryl ; Rusnak, Alison ; Aul, Ritu B. ; Yoon, Grace ; Gonorazky, Hernan ; McNiven, Vanda ; Mercimek-Andrews, Saadet ; Guerin, Andrea ; Deshwar, Ashish R. ; Marwaha, Ashish ; Weksberg, Rosanna ; Karp, Natalya ; Campbell, Maggie ; Al-Qattan, Sarah ; Shuen, Andrew Y. ; Inbar-Feigenberg, Michal ; Cohn, Ronald ; Szuto, Anna ; Inglese, Cara ; Poirier, Myriam ; Chad, Lauren ; Potter, Beth ; Boycott, Kym M.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Johnstone, Devon L.; Nguyen, Thi Tuyet Mai; Zambonin, Jessica; Kernohan, Kristin D.; St-Denis, Anik; Baratang, Nissan V.; Hartley, Taila; Geraghty, Michael T.; Richer, Julie; Majewski, Jacek; Bareke, Eric; Guerin, Andrea; Pendziwiat, Manuela; Pena, Loren D.M.; Braakman, Hilde M.H.; Gripp, Karen W.; Edmondson, Andrew C.; He, Miao; Spillmann, Rebecca C.; Eklund, Erik A.; Bayat, Allan; McMillan, Hugh J.; Boycott, Kym M.; Campeau, Philippe M.
Journal of Inherited Metabolic Disease. 43(6):1321-1332
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