Publications by authors named "Fernanda Calderon"

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[Chilean medicinal plants: From ethnobotanical knowledge to therapeutic effects and adverse reactions].
Manuel E Cortés, Fernanda Calderón

Rev Med Chil· May 2019

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Functional and molecular studies in primary carnitine deficiency.
Marta Frigeni, Bijina Balakrishnan, Xue Yin, Fernanda R O Calderon, Rong Mao

Hum Mutat· December 2017

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Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
Manshu Tang, Angelo Facchiano, Rakesh Rachamadugu, Fernanda Calderon, Rong Mao

Hum Mutat· July 2012

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RET mutation scanning update: exon 15.
Rebecca L Margraf, Fernanda R O Calderon, Rong Mao, Carl T Wittwer

Clin Chem· November 2009

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Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.
Rebecca L Margraf, David K Crockett, Patti M F Krautscheid, Ryan Seamons, Fernanda R O Calderon

Hum Mutat· April 2009

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Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
Fernanda R O Calderon, Amit R Phansalkar, David K Crockett, Martin Miller, Rong Mao

Hum Mutat· October 2007

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Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population.
Joshua A Bornhorst, Fernanda R O Calderon, Melinda Procter, Wei Tang, Edward R Ashwood

J Clin Pathol· October 2007

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Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.
Friederike Gedge, Jamie McDonald, Amit Phansalkar, Lan-Szu Chou, Fernanda Calderon

J Mol Diagn· April 2007

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A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.
Pinar Bayrak-Toydemir, Jamie McDonald, Nurten Akarsu, Reha M Toydemir, Fernanda Calderon

Am J Med Genet A· October 2006

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A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders.
Meredith C Hermosura, Hannah Nayakanti, Maxim V Dorovkov, Fernanda R Calderon, Alexey G Ryazanov

Proc Natl Acad Sci U S A· August 2005

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