학술논문
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'학술논문'
에서 검색결과 240건 | 목록
1~20
Academic Journal
Bibert, Stéphanie; Quinodoz, Mathieu; Perriot, Sylvain; Krebs, Fanny S.; Jan, Maxime; Malta, Rita C.; Collinet, Emilie; Canales, Mathieu; Mathias, Amandine; Faignart, Nicole; Roulet-Perez, Eliane; Meylan, Pascal; Brouillet, René; Opota, Onya; Lozano-Calderon, Leyder; Fellmann, Florence; Guex, Nicolas; Zoete, Vincent; Asner, Sandra; Rivolta, Carlo; Du Pasquier, Renaud; Bochud, Pierre-Yves
Nature Communications. 15(1)
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Academic Journal
Lance H. Rodan; Rebecca C. Spillmann; Harley T. Kurata; Shawn M. Lamothe; Jasmine Maghera; Rami Abou Jamra; Anna Alkelai; Stylianos E. Antonarakis; Isis Atallah; Omer Bar-Yosef; Frédéric Bilan; Kathrine Bjorgo; Xavier Blanc; Patrick Van Bogaert; Yoav Bolkier; Lindsay C. Burrage; Björn U. Christ; Jorge L. Granadillo; Patricia Dickson; Kirsten A. Donald; Christèle Dubourg; Aviva Eliyahu; Lisa Emrick; Kendra Engleman; Michaela Veronika Gonfiantini; Jean-Marc Good; Judith Kalser; Chiara Kloeckner; Guus Lachmeijer; Marina Macchiaiolo; Francesco Nicita; Sylvie Odent; Emily O’Heir; Xilma Ortiz-Gonzalez; Marta Pacio-Miguez; María Palomares-Bralo; Loren Pena; Konrad Platzer; Mathieu Quinodoz; Emmanuelle Ranza; Jill A. Rosenfeld; Eliane Roulet-Perez; Avni Santani; Fernando Santos-Simarro; Ben Pode-Shakked; Cara Skraban; Rachel Slaugh; Andrea Superti-Furga; Isabelle Thiffault; Richard H. van Jaabrsveld; Marie Vincent; Hong-Gang Wang; Pia Zacher; Mercedes E. Alejandro; Mahshid S. Azamian; Carlos A. Bacino; Ashok Balasubramanyam; Hsiao-Tuan Chao; Gary D. Clark; William J. Craigen; Hongzheng Dai; Shweta U. Dhar; Lisa T. Emrick; Alica M. Goldman; Neil A. Hanchard; Fariha Jamal; Lefkothea Karaviti; Seema R. Lalani; Brendan H. Lee; Richard A. Lewis; Ronit Marom; Paolo M. Moretti; David R. Murdock; Sarah K. Nicholas; James P. Orengo; Jennifer E. Posey; Lorraine Potocki; Susan L. Samson; Daryl A. Scott; Alyssa A. Tran; Tiphanie P. Vogel; Michael F. Wangler; Shinya Yamamoto; Christine M. Eng; Pengfei Liu; Patricia A. Ward; Edward Behrens; Matthew Deardorff; Marni Falk; Kelly Hassey; Kathleen Sullivan; Adeline Vanderver; David B. Goldstein; Heidi Cope; Allyn McConkie-Rosell; Kelly Schoch; Vandana Shashi; Edward C. Smith; Jennifer A. Sullivan; Queenie K.-G. Tan; Nicole M. Walley; Pankaj B. Agrawal; Alan H. Beggs; Gerard T. Berry; Lauren C. Briere; Laurel A. Cobban; Matthew Coggins; Cynthia M. Cooper; Elizabeth L. Fieg; Frances High; Ingrid A. Holm; Susan Korrick; Joel B. Krier; Sharyn A. Lincoln; Joseph Loscalzo; Richard L. Maas; Calum A. MacRae; J. Carl Pallais; Deepak A. Rao; Edwin K. Silverman; Joan M. Stoler; David A. Sweetser; Melissa Walker; Chris A. Walsh; Cecilia Esteves; Emily G. Kelley; Isaac S. Kohane; Kimberly LeBlanc; Alexa T. McCray; Anna Nagy; Surendra Dasari; Brendan C. Lanpher; Ian R. Lanza; Eva Morava; Devin Oglesbee; Guney Bademci; Deborah Barbouth; Stephanie Bivona; Olveen Carrasquillo; Ta Chen Peter Chang; Irman Forghani; Alana Grajewski; Rosario Isasi; Byron Lam; Roy Levitt; Xue Zhong Liu; Jacob McCauley; Ralph Sacco; Mario Saporta; Judy Schaechter; Mustafa Tekin; Fred Telischi; Willa Thorson; Stephan Zuchner; Heather A. Colley; Jyoti G. Dayal; David J. Eckstein; Laurie C. Findley; Donna M. Krasnewich; Laura A. Mamounas; Teri A. Manolio; John J. Mulvihill; Grace L. LaMoure; Madison P. Goldrich; Tiina K. Urv; Argenia L. Doss; Maria T. Acosta; Carsten Bonnenmann; Precilla D’Souza; David D. Draper; Carlos Ferreira; Rena A. Godfrey; Catherine A. Groden; Ellen F. Macnamara; Valerie V. Maduro; Thomas C. Markello; Avi Nath; Donna Novacic; Barbara N. Pusey; Camilo Toro; Colleen E. Wahl; Eva Baker; Elizabeth A. Burke; David R. Adams; William A. Gahl; May Christine V. Malicdan; Cynthia J. Tifft; Lynne A. Wolfe; John Yang; Bradley Power; Bernadette Gochuico; Laryssa Huryn; Lea Latham; Joie Davis; Deborah Mosbrook-Davis; Francis Rossignol; null Ben Solomon; John MacDowall; Audrey Thurm; Wadih Zein; Muhammad Yousef; Margaret Adam; Laura Amendola; Michael Bamshad; Anita Beck; Jimmy Bennett; Beverly Berg-Rood; Elizabeth Blue; Brenna Boyd; Peter Byers; Sirisak Chanprasert; Michael Cunningham; Katrina Dipple; Daniel Doherty; Dawn Earl; Ian Glass; Katie Golden-Grant; Sihoun Hahn; Anne Hing; Fuki M. Hisama; Martha Horike-Pyne; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Christina Lam; Kenneth Maravilla; Heather Mefford; J. Lawrence Merritt; Ghayda Mirzaa; Deborah Nickerson; Wendy Raskind; Natalie Rosenwasser; C. Ron Scott; Angela Sun; Virginia Sybert; Stephanie Wallace; Mark Wener; Tara Wenger; Euan A. Ashley; Gill Bejerano; Jonathan A. Bernstein; Devon Bonner; Terra R. Coakley; Liliana Fernandez; Paul G. Fisher; Laure Fresard; Jason Hom; Yong Huang; Jennefer N. Kohler; Elijah Kravets; Marta M. Majcherska; Beth A. Martin; Shruti Marwaha; Colleen E. McCormack; Archana N. Raja; Chloe M. Reuter; Maura Ruzhnikov; Jacinda B. Sampson; Kevin S. Smith; Shirley Sutton; Holly K. Tabor; Brianna M. Tucker; Matthew T. Wheeler; Diane B. Zastrow; Chunli Zhao; William E. Byrd; Andrew B. Crouse; Matthew Might; Mariko Nakano-Okuno; Jordan Whitlock; Gabrielle Brown; Manish J. Butte; Esteban C. Dell’Angelica; Naghmeh Dorrani; Emilie D. Douine; Brent L. Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K. Loo; Bryan C. Mak; Martin G. Martin; Julian A. Martínez-Agosto; Elisabeth McGee; Stanley F. Nelson; Shirley Nieves-Rodriguez; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; Genecee Renteria; Rebecca H. Signer; Janet S. Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Jeremy D. Woods; Justin Alvey; Ashley Andrews; Jim Bale; John Bohnsack; Lorenzo Botto; John Carey; Laura Pace; Nicola Longo; Gabor Marth; Paolo Moretti; Aaron Quinlan; Matt Velinder; Dave Viskochil; Pinar Bayrak-Toydemir; Rong Mao; Monte Westerfield; Anna Bican; Elly Brokamp; Laura Duncan; Rizwan Hamid; Jennifer Kennedy; Mary Kozuira; John H. Newman; John A. PhillipsIII; Lynette Rives; Amy K. Robertson; Emily Solem; Joy D. Cogan; F. Sessions Cole; Nichole Hayes; Dana Kiley; Kathy Sisco; Jennifer Wambach; Daniel Wegner; Dustin Baldridge; Stephen Pak; Timothy Schedl; Jimann Shin; Lilianna Solnica-Krezel; Eric Rush; Geoffrey S. Pitt; Ping Yee Billie Au
Genetics in Medicine. 23:1922-1932
Academic Journal
Denervaud, Solange ; Korff, Christian ; Fluss, Joël ; Kalser, Judith ; Roulet-Perez, Eliane ; Hagmann, Patric ; Lebon, Sébastien
In Epilepsy Research November 2021 177
Academic Journal
Faignart, Nicole; Nguyen, Karine; Soroken, Cindy Jan; Poloni, Claudia; Downs, Heather M; Laubscher, Bernard; Korff, Christian; Oaklander, Anne Louise; Roulet Perez, Eliane
European Journal of Paediatric Neurology, Vol. 28 (2020) pp. 198-204
Academic Journal
Yohana Lévêque; Eliane Roulet-Perez; Thierry Deonna; Annie Moulin; Lesly Fornoni; Claire Mayor-Dubois; Anne Caclin; Barbara Tillmann
Cortex. 129:99-111
Academic Journal
Robert S. Fisher; Helen Cross; Carol D'Souza; Jacqueline A. French; Sheryl Haut; Norimichi Higurashi; Edouard Hirsch; Floor E. Jansen; Jukka Peltola; Solomon L. Moshé; Emilio Perucca; Lieven Lagae; Eliane Roulet‐Perez; Andreas Schulze‐Bonhage; Ingrid E. Scheffer; Ernest Somerville; Michael R. Sperling; Samuel Wiebe; Elza Márcia Yacubian; Sameer Zuberi
Epilepsia. 60:1040-1044
Academic Journal
Karin, Haas-Lude; Eliane, Roulet-Perez; Marion, Döbler-Neumann; Samuel, Groeschel; Thomas, Nägele; Ingeborg, Krägeloh-Mann
European Journal of Paediatric Neurology. 23:604-608
Academic Journal
Robert S. Fisher; J. Helen Cross; Jacqueline A. French; Norimichi Higurashi; Edouard Hirsch; Floor E. Jansen; Lieven Lagae; Solomon L. Moshé; Jukka Peltola; Eliane Roulet Perez; Ingrid E. Scheffer; Sameer M. Zuberi
Zeitschrift für Epileptologie. 31:272-281
Academic Journal
Robert S. Fisher; J. Helen Cross; Carol D’Souza; Jacqueline A. French; Sheryl R. Haut; Norimichi Higurashi; Edouard Hirsch; Floor E. Jansen; Lieven Lagae; Solomon L. Moshé; Jukka Peltola; Eliane Roulet Perez; Ingrid E. Scheffer; Andreas Schulze-Bonhage; Ernest Somerville; Michael Sperling; Elza Márcia Yacubian; Sameer M. Zuberi
Zeitschrift für Epileptologie. 31:282-295
Academic Journal
Filipa Bastos; Mathieu Quinodoz; Marie-Claude Addor; Beryl Royer-Bertrand; Heidi Fodstad; Carlo Rivolta; Claudia Poloni; Andrea Superti-Furga; Eliane Roulet-Perez; Sebastien Lebon
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Academic Journal
Robert S. Fisher; Helen Cross; Carol D'Souza; Jacqueline A. French; Sheryl Haut; Norimichi Higurashi; Edouard Hirsch; Floor E. Jansen; Jukka Peltola; Solomon L. Moshe; Emilio Perucca; Lieven Lagae; Eliane Roulet‐Perez; Andreas Schulze‐Bonhage; Ingrid E. Scheffer; Ernest Somerville; Michael R. Sperling; Samuel Wiebe; Elza Marcia Yacubian; Sameer Zuberi
Epilepsia. 60:2003-2005
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Academic Journal
Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H; Undiagnosed Diseases Network
Academic Journal
Pediatrics International. 60:498-500
Academic Journal
Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C.; Christ, Björn U.; Granadillo, Jorge L.; Dickson, Patricia; Donald, Kirsten A.; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O’Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A.; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H.; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey S.; Au, Ping Yee Billie; Shashi, Vandana
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(10):2016-2016
Academic Journal
Neurocase. 22:45-54
Academic Journal
Lebon, Sébastien ; Suarez, Philippe ; Alija, Semsa ; Korff, Christian M. ; Fluss, Joël ; Mercati, Danielle ; Datta, Alexandre N. ; Poloni, Claudia ; Marcoz, Jean-Pierre ; Campos-Xavier, Ana Belinda ; Bonafé, Luisa ; Roulet-Perez, Eliane
In European Journal of Paediatric Neurology March 2015 19(2):170-175
Academic Journal
Lipp, Alexandra; Adam, Cécile; Brouland, Jean-Philippe; Messerer, Mahmoud; Armengaud, Jean-Baptiste; Asner, Sandra; Poloni, Claudia; Beck-Popovic, Maja; Roulet-Perez, Eliane; Lebon, Sébastien
Neurology. Jan 21, 2020 94(3):e330-e334
Academic Journal
García Segarra, Nuria ; Gautschi, Ivan ; Mittaz-Crettol, Laureane ; Kallay Zetchi, Christine ; Al-Qusairi, Lama ; Van Bemmelen, Miguel Xavier ; Maeder, Philippe ; Bonafé, Luisa ; Schild, Laurent ; Roulet-Perez, Eliane
In Journal of the Neurological Sciences 15 July 2014 342(1-2):69-78
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