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Lista de obras de Elisabetta Flex

A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities

artículo científico publicado en 2007

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

artículo científico publicado en 2014

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

scientific journal article

Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism

artículo científico publicado en 2003

Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome.

artículo científico publicado en 2007

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

artículo científico publicado en 2009

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

artículo científico publicado en 2015

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

artículo científico publicado en 2003

Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

article

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

scientific journal article

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy

artículo científico publicado en 2005

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