Novel frizzled-4 mutation is associated with familial exudative vitreoretinopathy mimicking persistent fetal vasculature

由 Patrick C. Staropoli, Nicolas A. Yannuzzi, Nimesh A. Patel, Catherin I. Negron, Supalert Prakhunhungsit, Audina M. Berrocal
出版 2020

A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations

由 Elaine Han, Nimesh A. Patel, Nicolas A. Yannuzzi, Diana M. Laura, Kenneth C. Fan, Catherin I. Negron, Supalert Prakhunhungsit, Willa L. Thorson, Audina M. Berrocal
出版 2020