Search Results - Claudio Sandoval

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  1. 1
    Hereditary Folate Malabsorption

    Hereditary Folate Malabsorption by James I. Geller, David Kronn, Somasundaram Jayabose, Claudio Sandoval

    Published 2002
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  2. 2
    Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome

    Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome by Sharon R. Pine, Qianxu Guo, Changhong Yin, Somasundaram Jayabose, Charlotte M. Druschel, Claudio Sandoval

    Published 2007
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  3. 3
    The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

    The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption by Rongbao Zhao, Sang Hee Min, Andong Qiu, Antoinette Sakaris, Gary L. Goldberg, Claudio Sandoval, J. Jeffrey Malatack, David S. Rosenblatt, I. David Goldman

    Published 2007
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  4. 4
    Identification of an Intestinal Folate Transporter and the Molecular Basis for Hereditary Folate Malabsorption

    Identification of an Intestinal Folate Transporter and the Molecular Basis for Hereditary Folate Malabsorption by Andong Qiu, Michaela Jansen, Antoinette Sakaris, Sang Hee Min, Shrikanta Chattopadhyay, Eugenia Tsai, Claudio Sandoval, Rongbao Zhao, Myles H. Akabas, I. David Goldman

    Published 2006
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  5. 5
    Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i>

    Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i> by Karen W. Gripp, Cynthia J. Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica X. Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L. Stabley, Katia Sol‐Church

    Published 2014
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  6. 6
    High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

    High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome by Leanne de Kock, Yu Chang Wang, Timothée Revil, Dunarel Badescu, Bárbara Rivera, Nelly Sabbaghian, Mona K. Wu, Evan Weber, Claudio Sandoval, Saskia Hopman, Johannes H. M. Merks, Johanna M. van Hagen, Antonia H. Bouts, David A. Plager, Aparna Ramasubramanian, Linus Forsmark, Kristine L Doyle, Tonja Toler, Janine Callahan, Charlotte Engelenberg, Dorothée Bouron-Dal Soglio, John R. Priest, Jiannis Ragoussis, William D. Foulkes

    Published 2015
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