檢索結果 - Megan Rech

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  1. 1
    Schaaf‐Yang syndrome overview: Report of 78 individuals

    Schaaf‐Yang syndrome overview: Report of 78 individuals 由 John McCarthy, Philip J. Lupo, Erin Kovar, Megan Rech, Bret L. Bostwick, Daryl A. Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A. Schrier Vergano, Edward J. Lose, Robert Smiegel, Yves Lacassie, Christian P. Schaaf

    出版 2018
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    Phenotypic expansion of <scp>Bosch–Boonstra–Schaaf</scp> optic atrophy syndrome and further evidence for genotype–phenotype correlations

    Phenotypic expansion of <scp>Bosch–Boonstra–Schaaf</scp> optic atrophy syndrome and further evidence for genotype–phenotype correlations 由 Megan Rech, John McCarthy, Chun‐An Chen, Jane C. Edmond, Veeral S. Shah, Daniëlle G.M. Bosch, Gerard T. Berry, Linford Williams, Suneeta Madan‐Khetarpal, Dmitriy Niyazov, Charles Shaw‐Smith, Erin Kovar, Philip J. Lupo, Christian P. Schaaf

    出版 2020
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    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 由 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

    出版 2019
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