Suchergebnisse - Claudio Sandoval

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  1. 1
    Hereditary Folate Malabsorption

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

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

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

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

    Veröffentlicht 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> von 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

    Veröffentlicht 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 von 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

    Veröffentlicht 2015
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