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1 . Academic Journal
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis
저자
by
Smalley, Susan V.
;
Preiss, Yudith
;
Suazo, José
;
Vega, Javier Andrés
;
Angellotti, Isidora
, et al.
소스
Genetics and Molecular Biology
. March 2015 38(1)
Open Access (SciELO)
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7 . Academic Journal
Melanocortin-4 receptor polymorphism rs17782313: Association with obesity and eating in the absence of hunger in Chilean children
저자
by
Ho-Urriola, Judith
;
Guzmán-Guzmán, Iris P.
;
Smalley, Susan V.
;
González, Andrea
;
Weisstaub, Gerardo
, et al.
소스
In
Nutrition
February 2014 30(2):145-149
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7 . Academic Journal
Divergent Metabolic Phenotype between Two Sisters with Congenital Generalized Lipodystrophy Due to Double AGPAT2 Homozygous Mutations. A Clinical, Genetic and In Silico Study.
저자
by
Cortés, Víctor A.
;
Smalley, Susan V.
;
Goldenberg, Denisse
;
Lagos, Carlos F.
;
Hodgson, María I.
, et al.
소스
PLoS ONE
. Jan2014, Vol. 9 Issue 1, p1-6. 6p.
Scopus
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7 . Academic Journal
APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.
저자
by
Dussaillant, Catalina
;
Serrano, Valentina
;
Maiz, Alberto
;
Eyheramendy, Susana
;
Cataldo, Luis Rodrigo
, et al.
소스
BMC Medical Genetics
. 2012, Vol. 13 Issue 1, p106-115. 10p. 1 Color Photograph, 1 Black and White Photograph.
Open Access (BioMed Central)
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7 . Periodical
Promoter hypermethylation of BRCA1 correlates with absence of expression in hereditary breast cancer tumors
저자
by
Tapia, Teresa
;
Smalley, Susan V.
;
Kohen, Paulina
;
Muñoz, Alex
;
Solis, Luisa M.
, et al.
소스
Epigenetics; May 2008, Vol. 3 Issue: 3 p157-163, 7p
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7 . Academic Journal
Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics
저자
by
Preiss, Yudith
;
Santos, Jose L.
;
Smalley, Susan V.
;
Maiz, Alberto
.
소스
REVISTA MEDICA DE CHILE
; MAY 2014, 142 5, p616-p622, 7p.
Scopus
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6 . Academic Journal
Divergent Metabolic Phenotype between Two Sisters with Congenital Generalized Lipodystrophy Due to Double AGPAT2 Homozygous Mutations. A Clinical, Genetic and In Silico Study
저자
by
Cortes, Victor A.
;
Smalley, Susan V.
;
Goldenberg, Denisse
;
Lagos, Carlos F.
;
Hodgson, Maria I.
, et al.
소스
PLOS ONE
; JAN 31 2014, 9 1, pe87173 6p.
Scopus
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7 . Academic Journal
Association between eating behavior scores and obesity in Chilean children
저자
by
Santos, Jose L.
;
Ho-Urriola, Judith A.
;
Gonzalez, Andrea
;
Smalley, Susan V.
;
Dominguez-Vasquez, Patricia
, et al.
소스
NUTRITION JOURNAL
; OCT 11 2011, 10 p108 8p.
Open Access (BioMed Central)
Scopus
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7 . Academic Journal
Association Between Chilhood Eating Behaviour, IL18 Genetic Markers and Obesity in a Case-Control Study in Chile
저자
by
Gonzalez, Andrea
;
Smalley, Susan V.
;
Ho-Urriola, Judith
;
Isabel Hodgson, M.
;
Rodrigo Cataldo, L.
, et al.
소스
JOURNAL OF NUTRIGENETICS AND NUTRIGENOMICS
; 2010, 3 2-3, p105-p105, 1p.
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