Search filters

List of works by Diogo Ribeiro

Characterization of a rare Unverricht-Lundborg disease mutation

scientific article published on 5 August 2015

Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy

article

Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples.

scientific article published on 21 April 2013

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses

scientific article published on 31 October 2018

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene

scientific article published on 18 October 2019

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity

scientific article published on 21 January 2020

Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?

scientific article published in April 2017

Rapid and Cost-Effective Method for the Detection of the c.533G>A Mutation in theHEXAGene ⬇️

scientific article published on January 4, 2011

Paulina is supported by:

About Paulina

Help