検索結果 - Patrice Eydoux

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  1. 1
    Alterations in expression, binding to ligand and DNA, and transcriptional activity of rearranged and wild-type retinoid receptors in retinoid-resistant acute promyelocytic leukemia cell lines

    Alterations in expression, binding to ligand and DNA, and transcriptional activity of rearranged and wild-type retinoid receptors in retinoid-resistant acute promyelocytic leukemia... 著者: Andreas Rosenauer, JV Raelson, Clara Nervi, Patrice Eydoux, A DeBlasio, WH Jr Miller

    出版事項 1996
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    Artigo
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  2. 2
    Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

    Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children 著者: Farah Zahir, Helen V. Firth, Ágnes Baross, Allen Delaney, Patrice Eydoux, William T. Gibson, Sylvie Langlois, Howard Martin, Lionel Willatt, Marco A. Marra, Jan M. Friedman

    出版事項 2007
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    Artigo
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  3. 3
    Mutations in EZH2 Cause Weaver Syndrome

    Mutations in EZH2 Cause Weaver Syndrome 著者: William T. Gibson, Rebecca L. Hood, Shing H. Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard A. Moore, Andrew J. Mungall, Patrice Eydoux, Riyana Babul‐Hirji, Jianghong An, Marco A. Marra, David Chitayat, Kym M. Boycott, David D. Weaver, Steven J.M. Jones

    出版事項 2011
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    Artigo
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  4. 4
    Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

    Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy 著者: Michelle Demos, Ilaria Guella, C DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric Toyota, Cyrus Boelman, Linda Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce Björnson, Gabriella Horváth, Elena Lopez‐Rangel, Clara van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary Connolly, Matthew J. Farrer

    出版事項 2019
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    Artigo
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  5. 5
    Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

    Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood 著者: Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross, Ramona Salvarinova, Joy Yaplito‐Lee, Saikat Santra, Casper Shyr, Gabriella Horváth, Patrice Eydoux, Anna Lehman, Virginie Bernard, Theresa Newlove, Henry Ukpeh, Anupam Chakrapani, Mary Anne Preece, Sarah Ball, James Pitt, Hilary Vallance, Marion B. Coulter-Mackie, Hien Anh Thi Nguyen, Linhua Zhang, Amit P. Bhavsar, Graham Sinclair, Abdul Waheed, Wyeth W. Wasserman, Sylvia Stöckler‐Ipsiroglu

    出版事項 2014
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    Artigo
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  6. 6
    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy 著者: Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric Toyota, Margot I. Van Allen, Mohnish Suri, Frances Elmslie, Marleen Simon, Koen L.I. van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary Connolly, Michelle Demos, Matthew J. Farrer, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Tara Candido, Patrice Eydoux, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Clara van Karnebeek, Suzanne Vercauteren

    出版事項 2017
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    Artigo
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  7. 7
    Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation

    Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation 著者: Jan M. Friedman, Ágnes Baross, Allen Delaney, Adrian Ally, Laura Arbour, Jennifer Asano, Dione K. Bailey, Sarah Barber, Patricia Birch, Mabel Brown-John, Manqiu Cao, Susanna Chan, David L. Charest, Noushin Farnoud, Nicole Fernandes, Stéphane Flibotte, Anne Go, William T. Gibson, Robert A. Holt, Steven J.M. Jones, Giulia C. Kennedy, Martin Krzywinski, Sylvie Langlois, Haiyan I. Li, Barbara McGillivray, Tarun Nayar, Trevor J. Pugh, Evica Rajcan‐Separovic, Jacqueline E. Schein, Angelique Schnerch, Asim Siddiqui, Margot I. Van Allen, Gary M. Wilson, Siu‐Li Yong, Farah Zahir, Patrice Eydoux, Marco A. Marra

    出版事項 2006
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    Artigo
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  8. 8
    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy 著者: Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Tom W. Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William T. Gibson, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Tamsin Tarling, Eric Toyota, Katelin N. Townsend, Margot I. Van Allen, Clara van Karnebeek, Suzanne Vercauteren

    出版事項 2017
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    Artigo
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  9. 9
    Exome Sequencing and the Management of Neurometabolic Disorders

    Exome Sequencing and the Management of Neurometabolic Disorders 著者: Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross, Gabriella Horváth, Ramona Salvarinova, Xin C. Ye, Lin-Hua Zhang, Amit P. Bhavsar, Jessica J. Y. Lee, Britt I. Drögemöller, Mena Abdelsayed, Majid Alfadhel, Linlea Armstrong, Matthias R. Baumgartner, Patricie Burda, Mary Connolly, Jessie M. Cameron, Michelle Demos, Tammie Dewan, Janis M. Dionne, A. Mark Evans, Jan M. Friedman, Ian Garber, M. E. Suzanne Lewis, Jiqiang Ling, Rupasri Mandal, André Mattman, Margaret L. McKinnon, Aspasia Michoulas, Daniel L. Metzger, Oluseye A. Ogunbayo, Bojana Rakić, Jacob Rozmus, Peter C. Ruben, Bryan Sayson, Saikat Santra, Kirk R. Schultz, Kathryn Selby, Paul Shekel, Sandra Sirrs, Cristina Skrypnyk, Andrea Superti‐Furga, Stuart E. Turvey, Margot I. Van Allen, David S. Wishart, Jiang Wu, John K. Wu, Dimitrios Zafeiriou, Leo A. J. Kluijtmans, Ron A. Wevers, Patrice Eydoux, Anna Lehman, Hilary Vallance, Sylvia Stöckler‐Ipsiroglu, Graham Sinclair, Wyeth W. Wasserman, Clara D.M. van Karnebeek

    出版事項 2016
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    Artigo
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