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List of works by Ana Gonçalves

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene

scientific article

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

scientific article

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene

scientific article published on 3 October 2017

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes

scientific article published on 10 August 2018

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

scientific article published on 23 October 2019

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies

scientific article published on 4 February 2016

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

scientific article published on 5 March 2015

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy

scientific article published on 10 July 2014

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy

scientific article published on 11 March 2008

RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

scientific article published on January 2017

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients

scientific article published on January 2014

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>

scientific article published on 30 July 2020

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

scientific article published on 04 December 2020

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