Showing 1 - 2 results of 2 for search 'Susan V Smalley', query time: 0.02s Refine Results
  1. 1
    Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.

    Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study. by Víctor A Cortés, Susan V Smalley, Denisse Goldenberg, Carlos F Lagos, María I Hodgson, José L Santos

    Published 2014-01-01
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    Article
  2. 2
    Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

    Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis by Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos

    Published 2015-03-01
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    Article

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