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List of works by Isabel Marques

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

scientific article published on 27 October 2016

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

scientific article

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

scientific article

New findings of Neurospora in Europe and comparisons of diversity in temperate climates on continental scales

scientific article published on July 2006

Role of the Conserved Cysteine Residues of the 11.5 kDa Subunit in Complex I Catalytic Properties

scientific article published on 29 January 2007

Supramolecular organization of the respiratory chain in Neurospora crassa mitochondria

scientific article

The 9.8 kDa subunit of complex I, related to bacterial Na(+)-translocating NADH dehydrogenases, is required for enzyme assembly and function in Neurospora crassa.

scientific article published in May 2003

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome

scientific article published on 29 August 2017

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

scientific article published on 25 February 2015

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

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