Որոնման արդյունքները - Sahar Esmaeeli-Nieh
- Ցուցադրվում են 1 - 8 արդյունքները 8
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Epileptic Encephalopathies: New Genes and New Pathways Sahar Esmaeeli Nieh, Elliott H. Sherr
Հրապարակվել է 2014Revisão -
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A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation 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
Հրապարակվել է 2007Artigo -
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Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria 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
Հրապարակվել է 2013Artigo -
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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability 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
Հրապարակվել է 2012Artigo -
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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy 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
Հրապարակվել է 2015Artigo -
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A clinical and molecular genetic study of 112 Iranian families with primary microcephaly 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
Հրապարակվել է 2010Artigo -
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De novo mutations in epileptic encephalopathies 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
Հրապարակվել է 2013Artigo -
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Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions 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
Հրապարակվել է 2020Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Gene
Genetics
Medicine
Mutation
Neuroscience
Environmental health
Epilepsy
Exome sequencing
Intellectual disability
Population
Bioinformatics
Exome
Psychiatry
Agenesis of the corpus callosum
Anatomy
Atrophy
Autism
Cerebellum
Consanguinity
Copy-number variation
Corpus Callosum Agenesis
Corpus callosum
Disease gene identification
Dravet syndrome
Encephalopathy
Endocrinology
Epilepsy syndromes
Gene duplication
Genetic heterogeneity