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Authors whose works are in public domain in at least one jurisdiction

List of works by Elisabetta Flex

1-12 of 12 results

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

scientific article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

scientific article published on 27 April 2015
The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy

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

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

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

scientific article published on 9 March 2007
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism

scientific article (publication date: March 2003)
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

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

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

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

scientific journal article
Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

article

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