Teresa Jaijo

Valencia, VC, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 44 publications

Cross-cultural adaptation and pilot psychometric validation of a quality-of-life questionnaire for adults with Primary Ciliary Dyskinesia in Spain.

Cross-cultural adaptation and pilot psychometric validation of a quality-of-life questionnaire for adults with Primary Ciliary Dyskinesia in Spain.

Journal: Respiratory medicine

Published: October 17, 2025

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Journal: European journal of neurology

Published: September 23, 2025

Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.

Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.

Journal: NPJ genomic medicine

Published: September 17, 2025

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Journal: The Journal of molecular diagnostics : JMD

Published: September 02, 2025

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.

Journal: Molecular diagnosis & therapy

Published: July 06, 2025

Ciliary Motility and Ultrastructure in Bronchial Epithelium of Lung Transplant Recipients with Primary Ciliary Dyskinesia.

Ciliary Motility and Ultrastructure in Bronchial Epithelium of Lung Transplant Recipients with Primary Ciliary Dyskinesia.

Journal: Journal of clinical medicine

Published: April 02, 2025

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Journal: International journal of neonatal screening

Published: November 28, 2024

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

Journal: Molecular therapy. Nucleic acids

Published: July 11, 2024

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 06, 2024

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Journal: Neurology. Genetics

Published: December 04, 2023

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Journal: Movement disorders clinical practice

Published: December 28, 2022

Complex dystonia in an adolescent male with a MECP2 variant.

Complex dystonia in an adolescent male with a MECP2 variant.

Journal: Neurologia

Published: November 30, 2022

Showing 1-12 of 44

Last Updated: 09/26/2026