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List of works by Cristina Espinosa da Silva

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

scientific article

A conserved transcriptional signature of delayed aging and reduced disease vulnerability is partially mediated by SIRT3.

scientific article

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations ⬇️

scientific article published on February 19, 2013

Awareness of the impact of sex and gender in the disease risk and outcomes in hematology and medical oncology—a survey of Swiss clinicians

scholarly article

Cardiac performance is influenced by rotational changes of position in the transversal plane, both in the horizontal and in the 60̊ head-up postures

scientific article published on 26 April 2018

Combination of contrast-enhanced wall motion analysis and myocardial deformation imaging during dobutamine stress echocardiography.

scientific article published on 3 September 2014

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

scientific article published on 6 November 2016

Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status

scientific article published on 08 February 2014

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

scientific article published on 6 September 2017

Documenting and Understanding Workplace Injuries Among Latino Day Laborers

scientific article published on 01 January 2020

Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous Variants

scientific article published on 15 October 2018

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

scientific article published on 23 June 2020

Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data ⬇️

scientific article published on August 5, 2013

Gender differences in myocardial function and arterio-ventricular coupling in response to maximal exercise in adolescent floor-ball players

scientific article

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

scientific article published on 01 December 2018

Good laboratory practice for clinical next-generation sequencing informatics pipelines.

scientific article

Hemodynamic outcomes of transcatheter aortic valve implantation with the CoreValve system: an early assessment

scientific article published on 22 April 2014

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing ⬇️

scientific article published on May 28, 2013

Prosthesis-patient mismatch after transcatheter aortic valve implantation: impact of 2D-transthoracic echocardiography versus 3D-transesophageal echocardiography

scientific article published on 8 August 2014

Psychometric Evaluation of the Personal Feelings Questionnaire-2 (PFQ-2) Shame Subscale Among Spanish-Speaking Female Sex Workers in Mexico

scientific article published on 28 December 2020

SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport

scientific article published on 21 August 2018

Stigma and Web-Based Sex Seeking Among Men Who Have Sex With Men and Transgender Women in Tijuana, Mexico: Cross-Sectional Study

scientific article published on 30 January 2020

The potential clinical value of contrast-enhanced echocardiography beyond current recommendations

scientific article

Transesophageal echocardiography measurements of aortic annulus diameter using biplane mode in patients undergoing transcatheter aortic valve implantation.

scientific article published on 30 January 2013

Two-dimensional color Doppler echocardiography for left ventricular stroke volume assessment: a comparison study with three-dimensional echocardiography

scientific article published on 11 April 2012

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