نتائج البحث - Dina Amrom

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  1. 1
    Mutations in<i>TMEM231</i>cause Joubert syndrome in French Canadians

    Mutations in<i>TMEM231</i>cause Joubert syndrome in French Canadians حسب Myriam Srour, Fadi F. Hamdan, Jeremy Schwartzentruber, Lysanne Patry, Luis H. Ospina, Michael Shevell, Valérie Désilets, Sylvia Dobrzeniecka, Géraldine Mathonnet, Emmanuelle Lemyre, Christine Massicotte, Damian Labuda, Dina Amrom, Eva Andermann, Guillaume Sébire, Bruno Maranda, FORGE Canada Consortium, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud

    منشور في 2012
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    Artigo
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  2. 2
    International consensus recommendations on the diagnostic work-up for malformations of cortical development

    International consensus recommendations on the diagnostic work-up for malformations of cortical development حسب Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi‐Buisson, Valerio Conti, Andrew E. Fry, Tobias Geis, David Gómez‐Andrés, Elena Parrini, Ivana Pogledić, Edith Said, Doriette Soler, Luis M. Valor, Maha S. Zaki, Ghayda Mirzaa, William B. Dobyns, Orly Reiner, Renzo Guerrini, Daniela T. Pilz, Ute Hehr, Richard J. Leventer, Anna Jansen, Grazia M.S. Mancini, Nataliya Di Donato

    منشور في 2020
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    Revisão
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  3. 3
    Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

    Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development حسب Richard S. Smith, Connor Kenny, Vijay Ganesh, Ahram Jang, Rebeca Borges-Monroy, Jennifer N. Partlow, Robert Hill, Taehwan Shin, Allen Y. Chen, Ryan N. Doan, Anna‐Kaisa Anttonen, Jaakko Ignatius, Līvija Medne, Carsten G. Bönnemann, Jonathan L. Hecht, Oili Salonen, A. James Barkovich, Annapurna Poduri, Martina Wilke, Marie‐Claire Y. de Wit, Grazia M.S. Mancini, László Sztriha, Kiho Im, Dina Amrom, Eva Andermann, Ritva Paetau, Anna‐Elina Lehesjoki, Christopher A. Walsh, Maria K. Lehtinen

    منشور في 2018
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    Artigo
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  4. 4
    Somatic Mutations in Cerebral Cortical Malformations

    Somatic Mutations in Cerebral Cortical Malformations حسب Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D’Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topçu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Şahin, Bernard S. Chang, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh

    منشور في 2014
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    Artigo
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  5. 5
    Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

    Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons حسب Karen Runge, Rémi Mathieu, Stéphane Bugeon, Sahra Lafi, Corinne Beurrier, Surajit Sahu, Fabienne Schaller, Arthur Loubat, Léonard Hérault, Stéphane Gaillard, Emilie Pallesi‐Pocachard, Aurélie Montheil, Andreas Bosio, Jill A. Rosenfeld, Eva Hudson, Kristin Lindstrom, Saadet Mercimek‐Andrews, Lauren Jeffries, Arie van Haeringen, Olivier Vanakker, Audrey Van Hecke, Dina Amrom, Sébastien Küry, Chana Ratner, Reena Jethva, Candace Gamble, Bernard Jacq, Laurent Fasano, Gabriel Santpere, Belén Lorente-Galdós, Nenad Šestan, A. Gélot, Sylvie Giacuzz, Sandra Goebbels, Alfonso Represa, Carlos Cardoso, Harold Cremer, Antoine de Chevigny

    منشور في 2021
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    Artigo
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  6. 6
    A clinical diagnostic algorithm for early onset cerebellar ataxia

    A clinical diagnostic algorithm for early onset cerebellar ataxia حسب Rick Brandsma, Corien C. Verschuuren‐Bemelmans, Dina Amrom, Nina Barišić, Peter Baxter, Enrico Bertini, Lubov Blumkin, Vesna Branković-Srećković, Oebele F. Brouwer, Katrin Bürk, Coriene E. Catsman‐Berrevoets, Dana Craiu, I.F.M. de Coo, J. Gburek, C Kennedy, Tom J. de Koning, H.P.H. Kremer, Ram Kumar, Alfons Macaya, Alessia Micalizzi, Marisol Mirabelli-Badenier, Andrea H. Németh, Sara Nuovo, Bwee Tien Poll‐The, Tally Lerman‐Sagie, Maja Steinlin, Matthis Synofzik, Marina A.J. Tijssen, Gessica Vasco, Michèl A.A.P. Willemsen, Ginevra Zanni, Enza Maria Valente, Eugen Boltshauser, Deborah A. Sival

    منشور في 2019
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  7. 7
    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria حسب Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay Ganesh, Richard S. Smith, Katherine O’kane, Rebecca C. Yeh, Jack H. Marciano, Samantha L. Kirkham, Connor Kenny, Janet Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell‐Luria, Abbe Lai, Robert Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh, Bassam Abu‐Libdeh, Lihadh Al‐Gazali, Muna Al Saffar, Edith Alva Moncayo, Dina Amrom, Eva Anderman, Anna‐Kaisa Anttonen, Saunder Barnes, Sara Barnett, Todd F. Barron, Brenda J. Barry, Lina Basel‐Vanagaite, Lailá Bastaki, Luis Bello‐Espinosa, Tawfeg Ben‐Omran, Matthew P. Bernard, Carsten Bönneman, Blaise F. D. Bourgeois, S.D.M. Brown, Roberto Caraballo, Gergory Cascino, M Clarke, Monika Cohen, Yanick J. Crow, Bernard Dan, Kira A. Dies, William B. Dobyns, François Dubeau, Christelle Moufawad El Achkar, Gregory M. Enns, Laurence Faivre, Laura Flores‐Sarnat, John Gaitanis, Kuchukhidze Giorgi, Andrew Green, A. Guberman, Renzo Guerrini, Micheil Innes, R.G. Jacobsen, Sebastian Jacquemont, Samir Khalil, Joerg Klepper, Dimitri Kranic, Kalpathy Krishnamoorthy, Anna‐Elina Lehesjoki, Dorit Lev, Richard J. Leventer, Emily C. Lisi, Valerie Loik Ramey, Sally Ann Lynch, Laila Mahmoud, David K. Manchester, David E. Mandelbaum, Daphna Marom, Deborah Marsden, Mayra Martinez Ojeda, Amira Masri, Līvija Medne, Denis Melanson, David T. Miller, Anna Minster, Edward Neilan, Dang Khoa Nguyen, Heather E. Olson, I Pascual-Castroviejo

    منشور في 2023
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    Artigo
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  8. 8
    Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

    Ultra-rare genetic variation in common epilepsies: a case-control sequencing study حسب Andrew S. Allen, Susannah T. Bellows, Samuel F. Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero L. Cavalleri, Seo‐Kyung Chung, Patrick Cossette, Norman Delanty, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, David B. Goldstein, Erin L. Heinzen, Michael S. Hildebrand, Michael R. Johnson, Ruben Kuzniecky, Daniel H. Lowenstein, Anthony G Marson, Richard Mayeux, Caroline M. Mebane, Heather C. Mefford, Terence J. O’Brien, Ruth Ottman, Steven Petrou, Slavgé Petrovski, William Owen Pickrell, Annapurna Poduri, Rodney A. Radtke, Mark I. Rees, Brigid M. Regan, Zhong Ren, Ingrid E. Scheffer, Graeme J. Sills, Rhys H. Thomas, Quanli Wang, Bassel Abou‐Khalil, Brian K. Alldredge, Dina Amrom, Eva Andermann, Frédérick Andermann, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory D. Cascino, D. Consalvo, Patricia K. Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miquel Fiol, Nathan B. Fountain, Jacqueline A. French, Catharine Freyer, Daniel J. Friedman, Eric B. Geller, Tracy A. Glauser, Simon Glynn, Kevin F. Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta M. Joshi, Andrés M. Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Paul Motika, Edward J. Novotny, Ruth Ottman, Juliann Paolicchi, Jack M. Parent, Kristen Park, Annapurna Poduri, Lynette G. Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott H. Sherr, Jerry J. Shih, Shlomo Shinnar, Rani K. Singh, Joseph Sirven, Michael C. Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith Weisenberg, Peter Widdess‐Walsh, Melodie R. Winawer

    منشور في 2017
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    Artigo
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