Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3

por Santos Malave, Gabriel, Izquierdo, Natalio J., Sanchez, Nestor P.
Publicado 2022

A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico

por Guardiola, Gabriel A, Ramos, Fabiola, Izquierdo, Natalio J, Oliver, Armando L
Publicado 2021

Successful repair of a spontaneous scleral rupture in a patient with type VI Ehlers-Danlos syndrome

por Lozada, Rosa, Amaral, Claudia, Alvarez-Falcón, Samuel, Izquierdo, Natalio J., Oliver, Armando L.
Publicado 2020

A Genotype-Phenotype Analysis of Usher Syndrome in Puerto Rico: A Case Series

por Santos, David F, Molina Thurin, Leonardo J, Gustavo Vargas, José, Izquierdo, Natalio J, Oliver, Armando
Publicado 2022

Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution

por Santos, David F, Molina Thurin, Leonardo J, Vargas, José Gustavo, Izquierdo, Natalio J, Oliver, Armando
Publicado 2022

Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant

por Muns, Sofia M., Montalvo, Lorena A., Vargas Del Valle, Jose G., Martinez, Meliza, Oliver, Armando L., Izquierdo, Natalio J.
Publicado 2020

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

por Oh, Jin Kyun, Vargas Del Valle, José G., Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R., Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R., Izquierdo, Natalio J., Duncan, Jacque L., Mahajan, Vinit B., Tsang, Stephen H.
Publicado 2022