Rapid-Onset Obesity Due to Impulsive Food-Seeking Behavior in a Puerto Rican Child With CHRNA7 15q13.3 Microdeletion

por Jiménez, Brian L, Carlo, Simón, De Jesús Rojas, Wilfredo
Publicado 2021

COL1A2 (p.Gly322Ser) Mutation Causes Late-Onset Osteogenesis Imperfecta: A Case Report

por Muñoz-Miro, Hector, Lugo, Elyette, Carlo, Simon, Ramírez, Norman
Publicado 2022

Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report

por Lugo, Elyette, Graulau, Eric, Ramos Cortes, Edwardo, Carlo, Simón, Ramírez, Norman
Publicado 2023

360 Retrospective Evaluation of Whole-Exome Sequencing in Puerto Ricans with Neurogenetic Complex Traits

por Albino, Elinette, Carlo, Simon, Chapel-Crespo, Cristel, Santiago-Cornier, Alberto, Buxo, Carmen
Publicado 2022

77680 Nasal Nitric Oxide Levels as a Diagnostic Tool for Primary Ciliary Dyskinesia in Puerto Rico

por De Jesus Rojas, Wilfredo, Morou-Bermudez, Evangelia, Wojna, Valerie, Carlo, Simon, Mosquera, Ricardo
Publicado 2021

Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome

por Benítez Ríos, Fabiola A, Rodríguez-Fernández, Laura F, Arciniegas, Norma J, Santiago Cornier, Alberto, Carlo, Simón
Publicado 2023

Genetic Evaluation of Late-Onset Hypertrophic Cardiomyopathy: An Autobiographical Case Report

por Carlo, Simon, Rodríguez-Fernández, Laura F, Benítez Ríos, Fabiola A, Arciniegas-Medina, Norma J, Martínez-González, Hector
Publicado 2022

323 Perceived Stress and Access to Care in Parents of Children Living a Diagnostic Odyssey in Puerto Rico

por Albino, Elinette M, Martinez, Karen, Carlo, Simon, Chapel-Crespo, Cristel, Ortiz, Antonio, Santiago-Cornier, Alberto, Velez-Bartolomei, Frances, Buxo, Carmen
Publicado 2023

A Phase II, Randomized, Safety and Immunogenicity Trial of a Re-Derived, Live-Attenuated Dengue Virus Vaccine in Healthy Children and Adults Living in Puerto Rico

por Bauer, Kristen, Esquilin, Ines O., Cornier, Alberto Santiago, Thomas, Stephen J., Quintero del Rio, Ana I., Bertran-Pasarell, Jorge, Morales Ramirez, Javier O., Diaz, Clemente, Carlo, Simon, Eckels, Kenneth H., Tournay, Elodie, Toussaint, Jean-Francois, De La Barrera, Rafael, Fernandez, Stefan, Lyons, Arthur, Sun, Wellington, Innis, Bruce L.
Publicado 2015

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

por Gonzaga-Jauregui, Claudia, Yesil, Gozde, Nistala, Harikiran, Gezdirici, Alper, Bayram, Yavuz, Nannuru, Kalyan C., Pehlivan, Davut, Yuan, Bo, Jimenez, Johanna, Sahin, Yavuz, Paine, Ingrid S., Akdemir, Zeynep Coban, Rajamani, Saathyaki, Staples, Jeffrey, Dronzek, John, Howell, Kristen, Fatih, Jawid M., Smaldone, Silvia, Schlesinger, Alan E., Ramírez, Norman, Cornier, Alberto S., Kelly, Melissa A., Haber, Robert, Chim, Shek Man, Nieman, Kristy, Wu, Nan, Walls, Johnathon, Poueymirou, William, Siao, Chia-Jen, Sutton, V. Reid, Williams, Marc S., Posey, Jennifer E., Gibbs, Richard A., Carlo, Simon, Tegay, David H., Economides, Aris N., Lupski, James R.
Publicado 2020