檢索結果 - Dima El‐Khechen

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  1. 1
    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders 由 Sandesh C.S. Nagamani, Ayelet Erez, Bruria Ben‐Zeev, Moshe Frydman, Susan Winter, Robert S. Zeller, Dima El‐Khechen, Luis Escobar, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung

    出版 2012
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  2. 2
    Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

    Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications 由 Erica D. Smith, Kelly Radtke, Mari Rossi, Deepali N. Shinde, Sourat Darabi, Dima El‐Khechen, Zöe Powis, Katherine L. Helbig, Kendra Waller, Dorothy K. Grange, Sha Tang, Kelly D. Farwell Hagman

    出版 2017
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  3. 3
    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases 由 Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Erica D. Smith, Kelly Radtke, Layla Shahmirzadi, Dima El‐Khechen, Zöe Powis, Elizabeth Chao, Wendy Alcaraz, Katherine L. Helbig, Samin A. Sajan, Mari Rossi, Hsiao‐Mei Lu, Robert Huether, Shuwei Li, Sitao Wu, Mark E. Nuñes, Sha Tang

    出版 2016
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  4. 4
    Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

    Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions 由 Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen, Zöe Powis, Elizabeth Chao, Brigette Tippin Davis, Ruth M. Baxter, Wenqi Zeng, Cameron Mroske, Melissa Parra, Stephanie Gandomi, Ira Lu, Xiang Li, Hong Lu, Hsiao‐Mei Lu, David Salvador, David Ruble, Monica Lao, Soren Fischbach, Jennifer X. Wen, Shela Lee, Aaron Elliott, Charles Dunlop, Sha Tang

    出版 2014
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  5. 5
    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization 由 Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader, Luis Escobar, Dima El‐Khechen, Stephanie E. Vallee, Mary Beth Dinulos, Cynthia J. Curry, Jamie Fisher, Raymond C. Tervo, Mark C. Hannibal, Kiana Siefkas, Philip Wyatt, Lauren S. Hughes, Rosemarie Smith, Sara Ellingwood, Yves Lacassie, Tracy Stroud, Sandra A. Farrell, Pedro A. Sanchez‐Lara, Linda M. Randolph, Dmitriy Niyazov, Cathy A. Stevens, Cheri Schoonveld, David Skidmore, Sara MacKay, Judith H. Miles, Manikum Moodley, Adam Huillet, Nicholas J. Neill, Jay W. Ellison, Blake C. Ballif, Lisa G. Shaffer

    出版 2013
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  6. 6
    ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

    ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity 由 Hiromi Hirata, Indrajit Nanda, Anne van Riesen, G. McMichael, Hao Hu, M Hambrock, Marie-Amélie Papon, Ute Fischer, Sylviane Marouillat, Can Ding, Servane Alirol, Melanie Bienek, Sabine Preisler-Adams, Astrid Grimme, Dominik Seelow, Richard Webster, Eric Haan, Alastair H. MacLennan, Werner Stenzel, Tzu Ying Yap, Alison Gardner, Lam Son Nguyen, Marie Shaw, Nicolas Lebrun, Stefan A. Haas, Wolfram Kreß, Thomas Haaf, Elke Schellenberger, Jamel Chelly, Géraldine Viot, Lisa G. Shaffer, Jill A. Rosenfeld, Nancy Kramer, Rena E. Falk, Dima El‐Khechen, Luis Escobar, Raoul C. M. Hennekam, Peter Wieacker, Christoph Hübner, Hans‐Hilger Ropers, Jozef Gécz, Markus Schuelke, Frédéric Laumonnier, Vera M. Kalscheuer

    出版 2013
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  7. 7
    Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

    Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants 由 Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A. Filipink, Juliann McConnell, Brad Angle, Wendy S. Meschino, Marjan M. Nezarati, Alexander Asamoah, Kelly E. Jackson, Gordon C. Gowans, Judith A. Martin, Erin P. Carmany, David W. Stockton, Rhonda E. Schnur, Lynette S. Penney, Donna M. Martin, Salmo Raskin, Kathleen A. Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M. Niyazov, Luis Escobar, Dima El‐Khechen, Kisha Johnson, Robert Roger Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K. Brasington, J. Edward Spence, Laura Martin, Carol L. Clericuzio, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler

    出版 2012
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  8. 8
    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 由 Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane McCarthy, Carl Baker, Heather C. Mefford, Jeffrey M. Kidd, Sharon R. Browning, Brian L. Browning, Diane E. Dickel, Deborah L. Levy, Blake C. Ballif, Kathryn Platky, Darren Farber, Gordon C. Gowans, Jessica J Wetherbee, Alexander Asamoah, David D. Weaver, Paul R. Mark, Jennifer A. Dickerson, Bhuwan P. Garg, Sara Ellingwood, Rosemarie Smith, Valerie Banks, Wendy E. Smith, Marie McDonald, Joe J. Hoo, Beatrice N. French, Cindy Hudson, John P. Johnson, Jillian R. Ozmore, John B. Moeschler, Urvashi Surti, Luis Escobar, Dima El‐Khechen, Jerome L. Gorski, Jennifer Kussmann, Bonnie Anne Salbert, Yves Lacassie, Alisha Biser, Donna M. McDonald‐McGinn, Elaine H. Zackai, Matthew A. Deardorff, Tamim H. Shaikh, Eric Haan, Kathryn Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E. DeLisi, Jonathan Sebat, Mary‐Claire King, Lisa G. Shaffer, Evan E. Eichler

    出版 2010
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  9. 9
    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome 由 Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, Natalie Hauser, Rebecca L. Belmonte, G. R. Wilson, Daniëlle G.M. Bosch, Paula A. Bubulya, Vandana Shashi, Slavé Petrovski, Joshua K. Stone, Eun Young Park, Joris A. Veltman, Margje Sinnema, Connie T. R. M. Stumpel, Jos Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B.A. de Vries, Tamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine Bachman, Andrea Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortüm, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria C. Bramswig, Franco Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlène Rio, Serge Romana, Sha Tang, Dima El‐Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P.A. Stegmann, Servi J.C. Stevens, Dong‐Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M.S. Mancini, R Myers, Laurie B. Owen, Ssang‐Taek Lim, David L. Stachura, Lisenka E.L.M. Vissers, E. Ahn

    出版 2016
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