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ARVO Annual Meeting Abstract June 2020

Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy

Rui Chen; Renae Elaine Bertrand; Jun Wang; Kaitlyn H. Xiong; Chinthana Thangavel; Xinye Qian; Rola Ba-Abbad; Renata Simoes; Shirley Aparecida Madureira Sampaio; Keren J. Carss; F. Lucy Raymond; Anthony G Robson; Yumei Li; Andrew R. Webster; Gavin Arno; Fernanda Belga Ottoni Porto

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1953.

ARVO Annual Meeting Abstract July 2018

Comprehensive molecular diagnosis of 118 Leber Congenital Amaurosis and Early Onset Severe Retinal Distrophy by targeted next generation sequencing

Fernanda Belga Ottoni Porto; Shirley Aparecida Madureira Sampaio; Evan Jones; Fernando Kok; Rui Chen; Renata Toscano Simoes

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5419.

ARVO Annual Meeting Abstract June 2015

The mutation spectrum of a large Brazilian inherited retinal disease cohort

Fernanda Belga Ottoni Porto; Zachry Soens; Shirley Aparecida Madureira Sampaio; Igor Mendes Maia; Millena Carolina Pereira Silva Sousa; Yumei Li; Shan Xu; Katharina Schulze; Renata Toscano Simoes; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2858.

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