Ana C. Esposito
Rio De Janeiro, RJ, Brazil
Last Updated: 09/26/2026
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Found 6 publications
Correspondence on "Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect" by Nizon et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 20, 2022
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.
Journal: American journal of medical genetics. Part A
Published: July 18, 2017
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
Journal: Orphanet journal of rare diseases
Published: October 13, 2015
Identification and Quantification of the Biomarker Glucose Tetrasaccharide Glc.
Journal: Journal of neuromuscular diseases
Published: January 01, 2015
Clinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings - Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease.
Journal: Journal of neuromuscular diseases
Published: January 01, 2015
Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil.
Journal: Journal of community genetics
Published: January 23, 2014
Showing 1-6 of 6
Last Updated: 09/26/2026