Publications by authors named "Stephanie Lotz-Esquivel"

3Publications

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.

JIMD Rep 2020 Mar 6;52(1):55-62. Epub 2020 Feb 6.

Servicio de Genética y Enfermedades Metabólicas, Departamento de Pediatría, Hospital Nacional de Niños, "Dr. Carlos Sáenz Herrera", Caja Costarricense de Seguro Social & Sistema de Estudios de Posgrado Universidad de Costa Rica San José Costa Rica.

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Source
http://dx.doi.org/10.1002/jmd2.12098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052697PMC
March 2020

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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Source
http://doi.wiley.com/10.1002/ajmg.a.38672
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018