檢索結果 - Dietrich Stephan

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  1. 1
    Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes

    Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes 由 Merlin G. Butler, Syed K. Rafi, Waheeda A. Hossain, Dietrich Stephan, Ann M. Manzardo

    出版 2015
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  2. 2
    Genome-Wide Analyses of Steroid- and Radiation-Triggered Programmed Cell Death in Drosophila

    Genome-Wide Analyses of Steroid- and Radiation-Triggered Programmed Cell Death in Drosophila 由 Cheng‐Yu Lee, Emily Clough, Paula Yellon, Tanya M. Teslovich, Dietrich Stephan, Eric H. Baehrecke

    出版 2003
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  3. 3
    Non-thermal Plasma Activates Human Keratinocytes by Stimulation of Antioxidant and Phase II Pathways

    Non-thermal Plasma Activates Human Keratinocytes by Stimulation of Antioxidant and Phase II Pathways 由 Schmidt, Anke, Dietrich, Stephan, Steuer, Anna, Weltmann, Klaus-Dieter, von Woedtke, Thomas, Masur, Kai, Wende, Kristian

    出版 2015
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  4. 4
    Scavenger Chemokine (CXC Motif) Receptor 7 (CXCR7) Is a Direct Target Gene of HIC1 (Hypermethylated in Cancer 1)

    Scavenger Chemokine (CXC Motif) Receptor 7 (CXCR7) Is a Direct Target Gene of HIC1 (Hypermethylated in Cancer 1) 由 Capucine Van Rechem, Brian R. Rood, Majid Touka, Sébastien Pinte, Mathias Jenal, Cateline Guérardel, Keri Ramsey, Didier Monté, Agnès Bégué, Mario P. Tschan, Dietrich Stephan, Dominique Leprince

    出版 2009
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  5. 5
    A Translational Profiling Approach for the Molecular Characterization of CNS Cell Types

    A Translational Profiling Approach for the Molecular Characterization of CNS Cell Types 由 Myriam Heiman, Anne Schaefer, Shiaoching Gong, Jayms D. Peterson, Michelle Day, Keri E. Ramsey, Mayte Suárez‐Fariñas, Cordelia S. Schwarz, Dietrich Stephan, D. James Surmeier, Paul Greengard, Nathaniel Heintz

    出版 2008
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  6. 6
    A genome-wide association study for age-related hearing impairment in the Saami

    A genome-wide association study for age-related hearing impairment in the Saami 由 Lut Van Laer, Jeroen R. Huyghe, Samuli Hannula, Els Van Eyken, Dietrich Stephan, Elina Mäki‐Torkko, Pekka Aikio, Erik Fransén, Alana Lysholm-Bernacchi, Martti Sorri, Matthew J. Huentelman, Guy Van Camp

    出版 2010
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  7. 7
    Autism and Increased Paternal Age Related Changes in Global Levels of Gene Expression Regulation

    Autism and Increased Paternal Age Related Changes in Global Levels of Gene Expression Regulation 由 Mark D. Alter, Rutwik Kharkar, Keri E. Ramsey, David W. Craig, Raun D. Melmed, Theresa A. Grebe, R. Curtis Bay, Sharman Ober‐Reynolds, Janet Kirwan, Josh J. Jones, J. Blake Turner, René Hen, Dietrich Stephan

    出版 2011
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  8. 8
    Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5

    Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5 由 Erik G. Puffenberger, Kevin A. Strauss, Keri Ramsey, David W. Craig, Dietrich Stephan, Donna L. Robinson, C. Hendrickson, Scott Gottlieb, David A. Ramsay, Victoria Mok Siu, Gregory G. Heuer, Peter B. Crino, D. Holmes Morton

    出版 2007
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  9. 9
    Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

    Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans 由 Nicolas Grillet, Martin Schwander, Michael S. Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer Webster, Kimia Kahrizi, Hossein Najmabadi, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Tim Wiltshire, Lisa M. Tarantino, Peter Kühn, Richard J. Smith, Ulrich Müller

    出版 2009
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  10. 10
    Calmodulin-binding transcription activator 1 ( CAMTA1 ) alleles predispose human episodic memory performance

    Calmodulin-binding transcription activator 1 ( CAMTA1 ) alleles predispose human episodic memory performance 由 Matthew J. Huentelman, Andreas Papassotiropoulos, David W. Craig, Frédéric J. Hoerndli, John V. Pearson, Kim‐Dung Huynh, Jason J. Corneveaux, Jürgen Hänggi, Christian R.A. Mondadori, Andreas Buchmann, Eric M. Reiman, Katharina Henke, Dominique J.‐F. de Quervain, Dietrich Stephan

    出版 2007
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  11. 11
    Progressive juvenile-onset punctate cataracts caused by mutation of the γD-crystallin gene

    Progressive juvenile-onset punctate cataracts caused by mutation of the γD-crystallin gene 由 Dietrich Stephan, Elizabeth M. Gillanders, Deborah K. VanderVeen, Diana Freas‐Lutz, Graeme Wistow, Andreas D. Baxevanis, Christiane M. Robbins, Ann Van Auken, Matthew I. Quesenberry, Joan E. Bailey‐Wilson, Suh-Hang Hank Juo, Jeffrey M. Trent, Lois E.H. Smith, Michael Brownstein

    出版 1999
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  12. 12
    Study of a Swiss dopa-responsive dystonia family with a deletion in <i>GCH1</i>

    Study of a Swiss dopa-responsive dystonia family with a deletion in <i>GCH1</i> 由 Christian Wider, Stacey Melquist, M. Hauf, Alessandra Solida, Stephanie A. Cobb, Jennifer M. Kachergus, Jenny Gass, Keith D. Coon, Matthew Baker, Ashley Cannon, Dietrich Stephan, Daniel F. Schorderet, Joseph Ghika, P. R. Burkhard, Gregory Kapatos, M. Hutton, Matthew J. Farrer, Zbigniew K. Wszołek, François Vingerhoets

    出版 2007
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  13. 13
    Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of <i>TSPYL</i> loss of function

    Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of <i>TSPYL</i> loss of function 由 Erik G. Puffenberger, Diane Hu‐Lince, Jennifer M. Parod, David W. Craig, Seth Dobrin, Andrew R. Conway, Elizabeth A. Donarum, Kevin A. Strauss, Travis Dunckley, Javier F. Cárdenas, Kara Melmed, Courtney Wright, Winnie S. Liang, Phillip Stafford, Charles R. Flynn, D. Holmes Morton, Dietrich Stephan

    出版 2004
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  14. 14
    Common <i>Kibra</i> Alleles Are Associated with Human Memory Performance

    Common <i>Kibra</i> Alleles Are Associated with Human Memory Performance 由 Andreas Papassotiropoulos, Dietrich Stephan, Matthew J. Huentelman, Frédéric J. Hoerndli, David W. Craig, John V. Pearson, Kim‐Dung Huynh, Fabienne Brunner, Jason J. Corneveaux, David Osborne, M. Axel Wollmer, Amanda Aerni, Daniel Coluccia, Jürgen Hänggi, Christian R.A. Mondadori, Andreas Buchmann, Eric M. Reiman, Richard J. Caselli, Katharina Henke, Dominique J.‐F. de Quervain

    出版 2006
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  15. 15
    Nontoxic, double-deletion-mutant rabies viral vectors for retrograde targeting of projection neurons

    Nontoxic, double-deletion-mutant rabies viral vectors for retrograde targeting of projection neurons 由 Chatterjee, Soumya, Sullivan, Heather A., MacLennan, Bryan J., Xu, Ran, Hou, YuanYuan, Lavin, Thomas K., Lea, Nicholas E., Michalski, Jacob E., Babcock, Kelsey R., Dietrich, Stephan, Matthews, Gillian A., Beyeler, Anna, Calhoon, Gwendolyn G., Glober, Gordon, Whitesell, Jennifer D., Yao, Shenqin, Cetin, Ali, Harris, Julie A., Zeng, Hongkui, Tye, Kay M., Reid, R. Clay, Wickersham, Ian R.

    出版 2018
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  16. 16
    Genetic Control of Human Brain Transcript Expression in Alzheimer Disease

    Genetic Control of Human Brain Transcript Expression in Alzheimer Disease 由 Jennifer Webster, J. Raphael Gibbs, Jennifer Clarke, Monika Ray, Weixiong Zhang, Peter Holmans, Kristen Rohrer, Alice Zhao, Lauren Marlowe, Mona Kaleem, Donald McCorquodale, Cindy Cuello, Doris G. Leung, Leslie Bryden, Priti Nath, Victoria Zismann, Keta Joshipura, Matthew J. Huentelman, Diane Hu‐Lince, Keith D. Coon, David W. Craig, John V. Pearson, Christopher B. Heward, Eric M. Reiman, Dietrich Stephan, John Hardy, Amanda Myers

    出版 2009
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  17. 17
    GRM7 variants confer susceptibility to age-related hearing impairment

    GRM7 variants confer susceptibility to age-related hearing impairment 由 Rick A. Friedman, Lut Van Laer, Matthew J. Huentelman, Sonal S. Sheth, Els Van Eyken, Jason J. Corneveaux, Waibhav Tembe, Rebecca F. Halperin, Ashley Q. Thorburn, Sofie Thys, Sarah Bonneux, Erik Fransén, Jeroen R. Huyghe, Ilmari Pyykkö, Cor W. R. J. Cremers, Hannie Kremer, Ingeborg Dhooge, Dafydd Stephens, Eva Orzan, Markus Pfister, Michael Bille, Agnete Parving, Martti Sorri, Paul Van de Heyning, Linna Makmura, Jeffrey D. Ohmen, F. H. Linthicum, José N. Fayad, John V. Pearson, David W. Craig, Dietrich Stephan, Guy Van Camp

    出版 2008
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  18. 18
    Germline mutations in the ribonuclease L gene in families showing linkage with HPC1

    Germline mutations in the ribonuclease L gene in families showing linkage with HPC1 由 John D. Carpten, Nina N. Nupponen, Sarah D. Isaacs, Raman Sood, Christiane M. Robbins, Jianfeng Xu, Mezbah U. Faruque, Tracy Moses, Charles M. Ewing, Elizabeth M. Gillanders, Ping Hu, Piroska Bujnovszky, Izabela Makałowska, Agnes Baffoe‐Bonnie, Dennis Faith, Jeffrey R. Smith, Dietrich Stephan, Kathleen E. Wiley, M. Brownstein, Derek Gildea, Brian Kelly, Robert B. Jenkins, Galen Hostetter, Mika Matikainen, Johanna Schleutker, Kathy Klinger, Timothy D. Connors, Ying Xiang, Z. Wang, Angelo De Marzo, Nickolas Papadopoulos, Olli Kallioniemi, Robert D. Burk, Deborah A. Meyers, Henrik Grönberg, Paul S. Meltzer, Robert H. Silverman, Joan E. Bailey‐Wilson, Patrick Walsh, W B Isaacs, Jeffery M. Trent

    出版 2002
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  19. 19
    Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

    Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42 由 Guntram Borck, Atteeq U. Rehman, Kwanghyuk Lee, Hans‐Martin Pogoda, Naseebullah Kakar, Simon von Ameln, Nicolas Grillet, Michael S. Hildebrand, Zubair M. Ahmed, Gudrun Nürnberg, Muhammad Ansar, Sulman Basit, Qamar Javed, Robert J. Morell, Nabilah Nasreen, A. Eliot Shearer, Adeel Ahmad, Kimia Kahrizi, Rehan Sadiq Shaikh, Rana A. Ali, Shaheen N. Khan, Ingrid Goebel, Nicole C. Meyer, William J. Kimberling, Jennifer Webster, Dietrich Stephan, Martin R. Schiller, Melanie Bahlo, Hossein Najmabadi, Peter G. Gillespie, Peter Nürnberg, Bernd Wollnik, Saima Riazuddin, Richard J. Smith, Wasim Ahmad, Ulrich Müller, Matthias Hammerschmidt, Thomas B. Friedman, Sheikh Riazuddin, Suzanne M. Leal, Jamil Ahmad, Christian Kubisch

    出版 2011
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