Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Fabiana L Motta

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

scientific article published on 31 August 2020

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

scientific article

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

scientific article published on 9 September 2022

Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

scientific article published on 24 December 2019

TUBGCP4 - associated microcephaly and chorioretinopathy

scientific article published on 09 April 2020

Paulina is supported by:

About Paulina

Help