Associated Papers
The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.
Melendez-Montañez JM et al.
Genes, 2024
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6
Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report.
Michelen-Gómez E et al.
Puerto Rico Health Sciences Journal, 2021
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Suárez-González J et al.
Bmc Medical Genomics, 2021
A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.
Guardiola GA et al.
Clinical Ophthalmology (auckland, N.z.), 2021
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2011
Select a paper to view details