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