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List of works by Maria Isabel Alvarez-Mora

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability

scientific article published on 6 January 2016

A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.

scientific article published on 29 March 2012

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes

scientific article published on 10 January 2014

Bone morphogenetic protein receptor 2 in patients with idiopathic portal hypertension

scientific article published on September 2012

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.

scientific article published on 17 June 2016

Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

scientific article published on 6 January 2016

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

scientific article published on 18 June 2015

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Fragile X syndrome: an overview and update of the FMR1 gene.

scientific article

High apolipoprotein E4 allele frequency in FXTAS patients.

scientific article published on 14 March 2013

Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS.

scientific article published on 22 October 2016

Paternal transmission of a FMR1 full mutation allele.

scientific article published on 16 August 2017

Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome

scientific article published on 27 November 2015

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