Risultati della ricerca - Claudio Sandoval

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  1. 1
    Hereditary Folate Malabsorption

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

    Pubblicazione 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 di Sharon R. Pine, Qianxu Guo, Changhong Yin, Somasundaram Jayabose, Charlotte M. Druschel, Claudio Sandoval

    Pubblicazione 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 di Rongbao Zhao, Sang Hee Min, Andong Qiu, Antoinette Sakaris, Gary L. Goldberg, Claudio Sandoval, J. Jeffrey Malatack, David S. Rosenblatt, I. David Goldman

    Pubblicazione 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 di Andong Qiu, Michaela Jansen, Antoinette Sakaris, Sang Hee Min, Shrikanta Chattopadhyay, Eugenia Tsai, Claudio Sandoval, Rongbao Zhao, Myles H. Akabas, I. David Goldman

    Pubblicazione 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> di 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

    Pubblicazione 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 di 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

    Pubblicazione 2015
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