Rezultati pretrage - Sahar Esmaeeli-Nieh
- Prikaz rezultata 1 – 8 od 8
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A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation od 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
Izdano 2007Artigo -
3
Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria od 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
Izdano 2013Artigo -
4
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability od 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
Izdano 2012Artigo -
5
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy od 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
Izdano 2015Artigo -
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A clinical and molecular genetic study of 112 Iranian families with primary microcephaly od 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
Izdano 2010Artigo -
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De novo mutations in epileptic encephalopathies od 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
Izdano 2013Artigo -
8
Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions od 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
Izdano 2020Artigo
Alati za pretragu:
Povezani predmeti
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