Search filters

List of works by Joana R Chora

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.

scientific article

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

scientific article published on 26 October 2017

ClinVar database of global familial hypercholesterolemia-associated DNA variants

scientific article published on 01 November 2018

Genomics of familial hypercholesterolaemia

scientific article published on 01 April 2019

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

scientific article published on 17 November 2016

Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.

scientific article

Paulina is supported by:

About Paulina

Help