检索结果 - Katherine Robbins

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  1. 1
    Large offspring syndrome

    Large offspring syndrome 由 Zhiyuan Chen, Katherine Robbins, Kevin D. Wells, Rocío Melissa Rivera

    出版 2013
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  2. 2
    Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine

    Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine 由 Katherine Robbins, Zhiyuan Chen, Kevin D. Wells, Rocío Melissa Rivera

    出版 2012
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  3. 3
    Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome

    Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome 由 Karen W. Gripp, Katherine Robbins, Nara Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Mäkitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol‐Church

    出版 2014
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  4. 4
    GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

    GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome 由 Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui, Margaret P Adam, Michele G. Mehaffey, Kelly Kernan, Candace T. Myers, Carrie Fagerstrom, George Anadiotis, Yassmine Akkari, Katherine Robbins, Karen W. Gripp, Wagner Antonio da Rosa Baratela, Michael B. Bober, Angela L. Duker, Dan Doherty, Jennifer C. Dempsey, Daniel G. Miller, Martin Kircher, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Katia Sol‐Church

    出版 2018
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