Isabel Lorda

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 8 publications

De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer's Disease Associated with Spasticity: A Case Report.

De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer's Disease Associated with Spasticity: A Case Report.

Journal: Journal of Alzheimer's disease : JAD

Published: August 09, 2021

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes.

Journal: Scientific reports

Published: June 23, 2020

Positive/retained SDHB immunostaining in renal cell carcinomas associated to germline SDHB-deficiency: case report.

Positive/retained SDHB immunostaining in renal cell carcinomas associated to germline SDHB-deficiency: case report.

Journal: Diagnostic pathology

Published: January 24, 2019

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.

Journal: Medicina clinica

Published: September 25, 2017

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

Journal: Scientific reports

Published: September 14, 2017

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

Journal: PloS one

Published: December 07, 2015

Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report.

Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report.

Journal: Gene

Published: May 29, 2015

Delayed development of multiple supernumerary teeth in a patient with juvenile myasthenia gravis treated with azathioprine

Delayed development of multiple supernumerary teeth in a patient with juvenile myasthenia gravis treated with azathioprine

Journal: Anales de pediatria (Barcelona, Spain : 2003)

Published: September 13, 2013

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Last Updated: 09/26/2026