检索结果 - Louise C. Pyle

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  1. 1
    A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development

    A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development 由 Louise C. Pyle, Katherine L. Nathanson

    出版 2017
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  2. 2
    De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

    De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies 由 Hailey Pinz, Louise C. Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R. Braddock, Aida Telegrafi, Kristin G. Monaghan, Elaine H. Zackai, Elizabeth Bhoj

    出版 2018
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  3. 3
    ΔF508 CFTR processing correction and activity in polarized airway and non-airway cell monolayers

    ΔF508 CFTR processing correction and activity in polarized airway and non-airway cell monolayers 由 Steven M. Rowe, Louise C. Pyle, A. Jurkevante, K Varga, James F. Collawn, Pater A. Sloane, Bradford A. Woodworth, Marina Mazur, Jennifer C. Fulton, Lijuan Fan, Y. Li, James A. Fortenberry, Eric J. Sorscher, John P. Clancy

    出版 2010
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  4. 4
    Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor

    Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor 由 Zhaoming Wang, Katherine A. McGlynn, Ewa Rajpert‐De Meyts, D. Timothy Bishop, Charles C. Chung, Marlene Dalgaard, Mark H. Greene, Ramneek Gupta, Tom Grotmol, Trine B. Haugen, Robert Karlsson, Kevin Litchfield, Nandita Mitra, Kasper Nielsen, Louise C. Pyle, Stephen M. Schwartz, Vésteinn Thórsson, Saran Vardhanabhuti, Fredrik Wiklund, Clare Turnbull, Stephen J. Chanock, Peter A. Kanetsky, Katherine L. Nathanson

    出版 2017
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  5. 5
    Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (<i>CHEK2</i>) With Susceptibility to Testicular Germ Cell Tumors

    Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (<i>CHEK2</i>) With Susceptibility to Testicular Germ Cell Tumors 由 Saud H. AlDubayan, Louise C. Pyle, Marija Gamulin, Tomislav Kuliš, Nathanael D. Moore, Amaro Taylor‐Weiner, Anis Hamid, Brendan Reardon, Bradley Wubbenhorst, Rama Godse, David J. Vaughn, Linda A. Jacobs, Stefanie Meien, Mislav Grgić, Željko Kaštelan, Sarah C. Markt, Scott M. Damrauer, Daniel J. Rader, Rachel L. Kember, Jennifer T. Loud, Peter A. Kanetsky, Mark H. Greene, Christopher J. Sweeney, Christian Kubisch, Katherine L. Nathanson, Eliezer M. Van Allen, Douglas R. Stewart, Davor Lessel

    出版 2019
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  6. 6
    Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

    Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice 由 Sarah J. Garnai, Michelle L. Brinkmeier, Ben Emery, Tomas S. Alemán, Louise C. Pyle, Biliana O. Veleva-Rotse, Robert A. Sisk, Frank W. Rozsa, Ayse Bilge Ozel, Jun Z. Li, Sayoko E. Moroi, Steven M. Archer, Cheng‐mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James A. Eadie, Jill Urquhart, Graeme Black, Mohammad Othman, Michael Boehnke, Scot A. Sullivan, Gregory L. Skuta, Hemant Pawar, Alexander Katz, Laryssa A. Huryn, Robert B. Hufnagel, Sally A. Camper, Julia E. Richards, Lev Prasov

    出版 2019
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  7. 7
    Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

    Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations 由 Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth Berger, Katelyn Payne, Diane Masser‐Frye, Tommy Hu, Michelle R. Christie, Nancy J. Clegg, Joshua L. Everson, Ariel F. Martinez, Laurence E. Walsh, Emma Bedoukian, Marilyn C. Jones, Catharine Harris, Korbinian M. Riedhammer, Daniela Choukair, Patricia Y. Fechner, Meilan M. Rutter, Sophia B. Hufnagel, Maian Roifman, Gad B. Kletter, Emmanuèle C. Délot, Éric Vilain, Robert J. Lipinski, Chad M. Vezina, Maximilian Muenke, David Chitayat

    出版 2019
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  8. 8
    Identification of 22 susceptibility loci associated with testicular germ cell tumors

    Identification of 22 susceptibility loci associated with testicular germ cell tumors 由 John Pluta, Louise C. Pyle, Kevin T. Nead, Rona Wilf, Mingyao Li, Nandita Mitra, Benita Weathers, Kurt D’Andrea, Kristian Almstrup, Lynn Anson‐Cartwright, Javier Benı́tez, Christopher D. Brown, Stephen J. Chanock, Chu Chen, Victoria K. Cortessis, Alberto Ferlin, Carlo Foresta, Marija Gamulin, Jourik A. Gietema, Chiara Grasso, Mark H. Greene, Tom Grotmol, Robert J. Hamilton, Trine B. Haugen, Russ Hauser, Michelle A.T. Hildebrandt, Matthew E. Johnson, Robert Karlsson, Lambertus A. Kiemeney, Davor Lessel, Ragnhild A. Lothe, Jennifer T. Loud, Chey Loveday, Paloma Martín, Coby Meijer, Jérémie Nsengimana, David I. Quinn, Þórunn Rafnar, Shweta Ramdas, Lorenzo Richiardi, Rolf I. Skotheim, Kāri Stefánsson, Clare Turnbull, David J. Vaughn, Fredrik Wiklund, Xifeng Wu, Daphne Yang, Tongzhang Zheng, Andrew D. Wells, Struan F.A. Grant, Ewa Rajpert‐De Meyts, Stephen M. Schwartz, D. Timothy Bishop, Katherine A. McGlynn, Peter A. Kanetsky, Katherine L. Nathanson, Christian Kubisch

    出版 2021
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  9. 9
    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update 由 Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A. Dabir, Katrina M. Dipple, William B. Dobyns, Jane Estrella, Hanna Faghfoury, Francine Pinheiro Favaro, Himanshu Goel, Pernille Axél Gregersen, Karen W. Gripp, Art Grix, M. L. Guion‐Almeida, Margaret Harr, Cindy Hudson, Alasdair G. W. Hunter, John P. Johnson, Shelagh Joss, Amy Kimball, Usha Kini, Antonie D. Kline, Julie Lauzon, Dorte L. Lildballe, Vanesa López‐González, Johanna Martinezmoles, Cliff Meldrum, Ghayda Mirzaa, Chantal F. Morel, Jenny E.V. Morton, Louise C. Pyle, Fabiola Quintero‐Rivera, Julie Richer, Angela E. Scheuerle, Bitten Schönewolf‐Greulich, Deborah Shears, Josh Silver, Amanda Smith, I. Karen Temple, Jiddeke M. van de Kamp, Fleur S van Dijk, Anthony M. Vandersteen, Sue M. White, Elaine H. Zackai, Ruobing Zou, CareRare Canada Consortium, Dennis E. Bulman, Kym M. Boycott, Matthew A. Lines

    出版 2015
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  10. 10
    Integrated Molecular Characterization of Testicular Germ Cell Tumors

    Integrated Molecular Characterization of Testicular Germ Cell Tumors 由 Hui Shen, Juliann Shih, Daniel P. Hollern, Linghua Wang, Reanne Bowlby, Satish K. Tickoo, Vésteinn Thórsson, Andrew J. Mungall, Yulia Newton, Apurva M. Hegde, Joshua Armenia, Francisco Sánchez-Vega, John Pluta, Louise C. Pyle, Rohit Mehra, Victor E. Reuter, Guilherme Godoy, Jeffrey Jones, Carl Simon Shelley, Darren R. Feldman, Daniel Onofre Vidal, Davor Lessel, Tomislav Kuliš, Flavio Mavignier Cárcano, Kristen Leraas, Tara M. Lichtenberg, Denise Brooks, Andrew D. Cherniack, Juok Cho, David I. Heiman, L. Sylvia, Minwei Liu, Michael S. Noble, Xi Liu, Hailei Zhang, Wanding Zhou, Jean C. Zenklusen, Carolyn M. Hutter, Ina Felau, Jiashan Zhang, Nikolaus Schultz, Gad Getz, Matthew Meyerson, Joshua M. Stuart, Rehan Akbani, David A. Wheeler, Peter W. Laird, Katherine L. Nathanson, Victoria K. Cortessis, Katherine A. Hoadley, Linghua Wang, Xi Liu, David A. Wheeler, Daniel Hughes, Kyle R. Covington, Joy C. Jayaseelan, Viktoriya Korchina, Lora Lewis, Hai Hu, HarshaVardhan Doddapaneni, Donna M. Muzny, Richard A. Gibbs, Katherine A. Hoadley, Daniel P. Hollern, Benjamin G. Vincent, Shengjie Chai, Christof C. Smith, J. Todd Auman, Yan Shi, Shaowu Meng, Tara Skelly, Donghui Tan, Umadevi Veluvolu, Piotr A. Mieczkowski, Corbin D. Jones, Matthew D. Wilkerson, Saianand Balu, Tom Bodenheimer, Alan P. Hoyle, Joshua M. Stuart, Lisle E. Mose, Janae V. Simons, Matthew G. Soloway, Jeffrey Roach, Joel S. Parker, D. Neil Hayes, Charles M. Perou, Juliann Shih, Andrew D. Cherniack, Matthew Meyerson, Gordon Saksena, Carrie Cibulskis, Steven E. Schumacher, Rameen Beroukhim, Stacey Gabriel, Reanne Bowlby, Andrew J. Mungall, Denise Brooks, L. Sylvia, Adrian Ally

    出版 2018
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