檢索結果 - M. Stephen Meyn
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A Distinctive DNA Damage Response in Human Hematopoietic Stem Cells Reveals an Apoptosis-Independent Role for p53 in Self-Renewal 由 Michael Milyavsky, Olga I. Gan, Magan Trottier, Martin Komosa, Ofer Tabach, Faiyaz Notta, Eric R. Lechman, Karin G. Hermans, Kolja Eppert, Zhanna Konovalova, Olga Ornatsky, Eytan Domany, M. Stephen Meyn, John E. Dick
出版 2010Artigo -
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Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study 由 Iris Cohn, Tara Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito
出版 2017Artigo -
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The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes. 由 Kathleen S. Keegan, Douglas A. Holtzman, Annemieke W. Plug, Erik Christenson, E E Brainerd, Gail Flaggs, Nicola J. Bentley, Elaine M. Taylor, M. Stephen Meyn, Stuart B. Moss, Antony M. Carr, Terry Ashley, Merl F. Hoekstra
出版 1996Artigo -
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Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder 由 Bridget A. Fernandez, Wendy Roberts, Brian Hon‐Yin Chung, Rosanna Weksberg, M. Stephen Meyn, Peter Szatmari, A. M. Joseph-George, Seonaid Mackay, Kathy Whitten, Barbara Noble, Cathy Vardy, Victoria Crosbie, Sandra Luscombe, E.E. Tucker, Lesley Turner, Christian R. Marshall, Stephen W. Scherer
出版 2009Artigo -
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Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing 由 Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek‐Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza‐Londono, Christian R. Marshall
出版 2018Artigo -
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Trio RNA sequencing in a cohort of medically complex children 由 Ashish R. Deshwar, Kyoko E. Yuki, Huayun Hou, Yijing Liang, Tayyaba Khan, Alper Celik, Arun Ramani, Roberto Mendoza‐Londono, Christian R. Marshall, Michael Brudno, Adam Shlien, M. Stephen Meyn, Robin Z. Hayeems, Brandon J. McKinlay, Panagiota Klentrou, Michael D. Wilson, Lianna Kyriakopoulou, Gregory Costain, James J. Dowling
出版 2023Artigo -
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Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity 由 Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell, Meredith Curtis, Stephanie Luca, Jason Buera, Danielle Arje, Miriam S. Reuter, Bhooma Thiruvahindrapuram, Brett Trost, Wilson W. L. Sung, Ryan K. C. Yuen, David Chitayat, Roberto Mendoza‐Londono, Dimitri J. Stavropoulos, Stephen W. Scherer, Christian R. Marshall, Ronald D. Cohn, Eyal Cohen, Julia Orkin, M. Stephen Meyn, Robin Z. Hayeems
出版 2020Artigo -
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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists 由 Kym M. Boycott, Taila Hartley, Shelin Adam, François Bernier, Karen Chong, Bridget A. Fernandez, Jan M. Friedman, Michael T. Geraghty, Stacey Hume, Bartha Maria Knoppers, Anne‐Marie Laberge, Jacek Majewski, Roberto Mendoza‐Londono, M. Stephen Meyn, Jacques L. Michaud, Tanya N. Nelson, Julie Richer, Bekim Sadiković, David Skidmore, Tracy Stockley, Sherry Taylor, Clara van Karnebeek, Ma’n H. Zawati, Julie Lauzon, Christine M. Armour
出版 2015Artigo -
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Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes 由 Ibrahim Ghemlas, Hongbing Li, Bozana Zlateska, Robert J. Klaassen, Conrad V. Fernandez, Rochelle Yanofsky, John K. Wu, Yves D. Pastore, Mariana Silva, Jeff H. Lipton, Josée Brossard, Bruno Michon, Sharon Abish, MacGregor Steele, Roona Sinha, Mark Belletrutti, Vicky R. Breakey, Lawrence Jardine, Lisa Goodyear, Lillian Sung, Santhosh Dhanraj, Emma Reble, Amanda Wagner, Joseph Beyene, Peter N. Ray, M. Stephen Meyn, Michaela Cada, Yigal Dror
出版 2015Artigo -
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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects 由 Corry M.R. Weemaes, Maarten JD van Tol, Jun Wang, Monique M. van Ostaijen-ten Dam, Marja CJA van Eggermond, Peter Thijssen, Caner Aytekin, Nicola Brunetti‐Pierri, Mirjam van der Burg, E. Graham Davies, Alina Ferster, Dieter Furthner, Giorgio Gimelli, A Gennery, Barbara Kloeckener‐Gruissem, M. Stephen Meyn, Cynthia M. Powell, İsmail Reisli, Catharina Schuetz, Ansgar Schulz, Andrea Shugar, Peter J. van den Elsen, Silvère M. van der Maarel
出版 2013Artigo
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