Aurora L. Sanchez

Barcelona, CT, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 29 publications

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Journal: Frontiers in genetics

Published: May 27, 2026

Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families.

Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families.

Journal: European journal of internal medicine

Published: April 28, 2026

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Journal: Cellular and molecular neurobiology

Published: August 05, 2025

Genotype analysis of Fabry disease in a Spanish at-risk population reveals 10 novel GLA variants.

Genotype analysis of Fabry disease in a Spanish at-risk population reveals 10 novel GLA variants.

Journal: Scientific reports

Published: June 10, 2025

Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.

Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.

Journal: Molecular vision

Published: February 16, 2025

Considerations for hereditary breast and ovarian cancer syndrome molecular diagnosis: experience from the clinical practice.

Considerations for hereditary breast and ovarian cancer syndrome molecular diagnosis: experience from the clinical practice.

Journal: Breast cancer research and treatment

Published: August 14, 2024

Early focal electroencephalogram and neuroimaging findings predict epilepsy development after aneurysmal subarachnoid hemorrhage.

Early focal electroencephalogram and neuroimaging findings predict epilepsy development after aneurysmal subarachnoid hemorrhage.

Journal: Epilepsy & behavior : E&B

Published: March 13, 2024

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Journal: Genes

Published: February 20, 2023

BAG3 Genetic Cardiomyopathy May Overlap Fulminant Myocarditis Clinical Findings.

BAG3 Genetic Cardiomyopathy May Overlap Fulminant Myocarditis Clinical Findings.

Journal: Circulation. Heart failure

Published: March 15, 2022

Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report.

Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report.

Journal: Movement disorders clinical practice

Published: March 04, 2022

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Journal: Orphanet journal of rare diseases

Published: September 09, 2021

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.

Journal: Genes

Published: March 17, 2021

Showing 1-12 of 29

Last Updated: 09/26/2026