Susan V. Smalley
Santiago, RM, Chile
Last Updated: 09/26/2026
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Found 9 publications
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis.
Journal: Genetics and molecular biology
Published: March 13, 2014
Association between genetic polymorphisms of interleukin 6 (IL6), IL6R and IL18 with metabolic syndrome in obese Chilean children
Journal: Revista medica de Chile
Published: November 27, 2013
Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.
Journal: PloS one
Published: October 15, 2013
Association of RNASEL and 8q24 variants with the presence and aggressiveness of hereditary and sporadic prostate cancer in a Hispanic population.
Journal: Journal of cellular and molecular medicine
Published: April 23, 2013
Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics
Journal: Revista medica de Chile
Published: March 14, 2013
Melanocortin-4 receptor polymorphism rs17782313: association with obesity and eating in the absence of hunger in Chilean children.
Journal: Nutrition (Burbank, Los Angeles County, Calif.)
Published: December 11, 2012
Copy number polymorphism of the salivary amylase gene: implications in human nutrition research.
Journal: Journal of nutrigenetics and nutrigenomics
Published: September 12, 2012
Plasma levels of interleukin-6 and interleukin-18 after an acute physical exercise: relation with post-exercise energy intake in twins.
Journal: Journal of physiology and biochemistry
Published: February 22, 2012
APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.
Journal: BMC medical genetics
Published: January 06, 2012
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Last Updated: 09/26/2026