Resultats de la cerca - Sahar Esmaeeli-Nieh

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  1. 1
    Epileptic Encephalopathies: New Genes and New Pathways

    Epileptic Encephalopathies: New Genes and New Pathways per Sahar Esmaeeli Nieh, Elliott H. Sherr

    Publicat 2014
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  2. 2
    A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

    A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation per Mohammad Mahdi Motazacker, Benjamin R. Rost, Tim Hucho, Masoud Garshasbi, Kimia Kahrizi, Reinhard Ullmann, Seyedeh Sedigheh Abedini, Sahar Esmaeeli Nieh, Saeid Hosseini Amini, Chandan Goswami, Andreas Tzschach, Lars Riff Jensen, Dietmar Schmitz, Hans Hilger Ropers, Hossein Najmabadi, Andreas W. Kuß

    Publicat 2007
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  3. 3
    Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

    Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria per Samin A. Sajan, Liliana Fernández, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Mari Wakahiro, Susan L. Christian, Jean‐Baptiste Rivière, Christopher T. Sullivan, Jyotsna Sudi, Michael J. Herriges, Alexander Paciorkowski, A. James Barkovich, Joseph Glessner, Kathleen J. Millen, Hákon Hákonarson, William B. Dobyns, Elliott H. Sherr

    Publicat 2013
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  4. 4
    Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

    Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability per Lia Abbasi‐Moheb, Sara Mertel, Melanie Gonsior, Leyla Nouri-Vahid, Kimia Kahrizi, Sebahattin Çirak, Dagmar Wieczorek, Mohammad Mahdi Motazacker, Sahar Esmaeeli-Nieh, Kirsten Cremer, Robert Weißmann, Andreas Tzschach, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Hossein Najmabadi, Hans‐Hilger Ropers, Stephan J. Sigrist, Andreas W. Kuß

    Publicat 2012
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  5. 5
    De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

    De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy per Sahar Esmaeeli Nieh, Maura R.Z. Madou, Minhajuddin Sirajuddin, Brieana Fregeau, Dianalee McKnight, Katrina W. Lexa, Jonathan B. Strober, Christine G. Spaeth, Barbara Hallinan, Nizar Smaoui, John Pappas, Thomas Andrew Burrow, Marie McDonald, Mariam Latibashvili, Esther Leshinsky‐Silver, Dorit Lev, Luba Blumkin, Ronald D. Vale, A. James Barkovich, Elliott H. Sherr

    Publicat 2015
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  6. 6
    A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

    A clinical and molecular genetic study of 112 Iranian families with primary microcephaly per Hossein Darvish, Sahar Esmaeeli-Nieh, Gholamreza Bahrami Monajemi, Marzieh Mohseni, Saghar Ghasemi-Firouzabadi, Seyedeh Sedigheh Abedini, Ideh Bahman, Payman Jamali, Sarah Azimi, Faezeh Mojahedi, A. Dehghan, Yousef Shafeghati, Aria Jankhah, Masoumeh Falah, Mohammad Javad Soltani Banavandi, Mahdi Ghani, Masoud Garshasbi, Fatemeh Rakhshani, Anoosh Naghavi, Andreas Tzschach, Heidemarie Neitzel, Hans‐Hilger Ropers, Andreas W. Kuß, Farkhondeh Behjati, Kimia Kahrizi, Hossein Najmabadi

    Publicat 2010
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  7. 7
    De novo mutations in epileptic encephalopathies

    De novo mutations in epileptic encephalopathies per Andrew S. Allen, Samuel F. Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E. Eichler, Michael P. Epstein, Tracy A. Glauser, David B. Goldstein, Yujun Han, Erin L. Heinzen, Yuki Hitomi, Katherine B. Howell, Michael Johnson, Ruben Kuzniecky, Daniel H. Lowenstein, Yi Lü, Maura R.Z. Madou, Anthony G Marson, Heather C Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Ruth Ottman, Slavé Petrovski, Annapurna Poduri, Elizabeth K. Ruzzo, Ingrid E. Scheffer, Elliott H. Sherr, Christopher J. Yuskaitis, Bassel Abou‐Khalil, Brian K. Alldredge, Jocelyn F. Bautista, Alex Boro, Gregory D. Cascino, D. Consalvo, Patricia K. Crumrine, Orrin Devinsky, Miquel Fiol, Nathan B. Fountain, Jacqueline A. French, Daniel Friedman, Eric B. Geller, Simon Glynn, 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, Shannon M. McGuire, Paul Motika, Edward J. Novotny, Juliann Paolicchi, Jack M. Parent, Kristen Park, Renée A. Shellhaas, Jerry J. Shih, 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

    Publicat 2013
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  8. 8
    Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

    Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions per Solveig K. Sieberts, Thanneer M. Perumal, Minerva M. Carrasquillo, Mariet Allen, Joseph S. Reddy, Gabriel E. Hoffman, Kristen K. Dang, John Calley, Philip J. Ebert, James A. Eddy, Xue Wang, Anna K. Greenwood, Sara Mostafavi, Schahram Akbarian, Jaroslav Bendl, Michael S. Breen, Kristen Brennand, Leanne Brown, Andrew Browne, Joseph D. Buxbaum, Alexander W. Charney, Andrew Chess, Lizette Couto, Greg Crawford, Olivia Devillers, Bernie Devlin, Amanda Dobbyn, Enrico Domenici, Michele Filosi, Elie Flatow, Nancy Francoeur, John F. Fullard, Sergio Espeso‐Gil, Kiran Girdhar, Attila Gulyás-Kovács, Raquel E. Gur, Chang-Gyu Hahn, Vahram Haroutunian, Mads E. Hauberg, Laura M. Huckins, Rivky Jacobov, Yan Jiang, Jessica Johnson, Bibi Kassim, Yungil Kim, Lambertus Klei, Robin S. S. Kramer, Mario Lauria, Thomas Lehner, David A. Lewis, Barbara K. Lipska, Kelsey S. Montgomery, Royce Park, Chaggai Rosenbluh, Panagiotis Roussos, Douglas M. Ruderfer, Geetha Senthil, Hardik Shah, Laura Sloofman, Lingyun Song, Eli Stahl, Patrick Sullivan, Roberto Visintainer, Jiebiao Wang, Ying‐Chih Wang, Jennifer Wiseman, Eva Xia, Wen Zhang, Elizabeth Zharovsky, Laura Addis, Sadiya N. Addo, David Airey, Matthias Arnold, David A. Bennett, Yingtao Bi, Knut Biber, Colette Blach, Elizabeth Bradhsaw, Paul E. Brennan, Rosa Canet-Aviles, Sherry Cao, Anna Cavalla, Yooree Chae, William W. Chen, Jie Cheng, David Collier, Jeffrey L. Dage, Eric B. Dammer, J. Wade Davis, John B. Davis, Derek Drake, Duc M. Duong, Brian J. Eastwood, Michelle E. Ehrlich, Benjamin M. Ellingson, Brett W. Engelmann, Sahar Esmaeeli-Nieh, Daniel Felsky, Cory C. Funk, Chris Gaiteri

    Publicat 2020
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