Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Jose Ronaldo Lima de Carvalho

Compound Heterozygous Novel Frameshift Variants in the PROM1 Gene Result in Leber Congenital Amaurosis

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Fundoscopy-Directed Genetic Testing to Re-Evaluate Negative Whole Exome Sequencing Results

Orphanet Journal of Rare Diseases

English