Torthaí cuardaigh - Michael D. Fountain

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  1. 1
    Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene

    Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene de réir Michael D. Fountain, Christian P. Schaaf

    Foilsithe / Cruthaithe 2016
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    Revisão
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  2. 2
    <i>Magel2</i> knockout mice manifest altered social phenotypes and a deficit in preference for social novelty

    <i>Magel2</i> knockout mice manifest altered social phenotypes and a deficit in preference for social novelty de réir Michael D. Fountain, Tao Huang, Chi‐An Chen, Jiani Yin, Christian P. Schaaf

    Foilsithe / Cruthaithe 2017
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    Artigo
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  3. 3
    Molecular Profiling Uncovers a p53-Associated Role for MicroRNA-31 in Inhibiting the Proliferation of Serous Ovarian Carcinomas and Other Cancers

    Molecular Profiling Uncovers a p53-Associated Role for MicroRNA-31 in Inhibiting the Proliferation of Serous Ovarian Carcinomas and Other Cancers de réir Chad J. Creighton, Michael D. Fountain, Zhifeng Yu, Ankur K. Nagaraja, Huifeng Zhu, Mahjabeen Khan, Emuejevoke Olokpa, Azam Zariff, Preethi H. Gunaratne, Martin M. Matzuk, Matthew L. Anderson

    Foilsithe / Cruthaithe 2010
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  4. 4
    Discovery of Novel MicroRNAs in Female Reproductive Tract Using Next Generation Sequencing

    Discovery of Novel MicroRNAs in Female Reproductive Tract Using Next Generation Sequencing de réir Chad J. Creighton, Ashley Benham, Huifeng Zhu, Mahjabeen F. Khan, Jeffrey G. Reid, Ankur K. Nagaraja, Michael D. Fountain, Olivia Dziadek, Derek Y. Han, Lang Ma, Jong Kim, Shannon M. Hawkins, Matthew L. Anderson, Martin M. Matzuk, Preethi H. Gunaratne

    Foilsithe / Cruthaithe 2010
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  5. 5
    USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

    USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder de réir Yi-Heng Hao, Michael D. Fountain, Klementina Fon Tacer, Fan Xia, Weimin Bi, Sung‐Hae Kang, Ankita Patel, Jill A. Rosenfeld, Cédric Le Caignec, Bertrand Isidor, Ian D. Krantz, Sarah E. Noon, Jean P. Pfotenhauer, Thomas M. Morgan, Rocio Moran, Robert C. Pedersen, Margarita Sáenz, Christian P. Schaaf, Patrick Ryan Potts

    Foilsithe / Cruthaithe 2015
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  6. 6
    The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

    The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families de réir Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia Ruivenkamp, Pedro Mancías, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M.A. van Ravenswaaij‐Arts, Inge B. Mathijssen, Sébastien Levesque, Naomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, M. E. Suzanne Lewis, Simone Race, Laura Stewart, Beverly N. Hay, Andrea M. Lewis, Rita Guerreiro, José Brás, Marcia P. Martins, G Derksen‐Lubsen, E Peeters, Connie T. R. M. Stumpel, Alexander P.A. Stegmann, Levinus A. Bok, Gijs W.E. Santen, Christian P. Schaaf

    Foilsithe / Cruthaithe 2016
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  7. 7
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies de réir Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    Foilsithe / Cruthaithe 2019
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