Ramses Porras-Badilla
San Jose, SJ, Costa Rica
Last Updated: 09/26/2026
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Found 8 publications
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
Journal: Journal of thrombosis and haemostasis : JTH
Published: February 04, 2022
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Journal: Orphanet journal of rare diseases
Published: August 30, 2021
Rubinstein-Taybi syndrome in diverse populations.
Journal: American journal of medical genetics. Part A
Published: June 26, 2020
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
Journal: JIMD reports
Published: September 04, 2019
Williams-Beuren syndrome in diverse populations.
Journal: American journal of medical genetics. Part A
Published: December 18, 2017
Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.
Journal: American journal of medical genetics. Part A
Published: July 28, 2015
Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency.
Journal: Brain & development
Published: January 05, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026