Jordi Pijuan
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 25 publications
Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases.
Journal: Archives of medical research
Published: December 04, 2025
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
Journal: International journal of molecular sciences
Published: August 27, 2025
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.
Journal: The Journal of clinical investigation
Published: July 29, 2025
Patient involvement in clinical trials: a paradigm shift in research.
Journal: Orphanet journal of rare diseases
Published: February 10, 2025
Centrifugal Atomization and Characterization of Fe-Si-B Amorphous Alloys.
Journal: Materials (Basel, Switzerland)
Published: December 13, 2024
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.
Journal: Clinical genetics
Published: August 22, 2023
Regulatory and pathogenic mechanisms in response to iron deficiency and excess in fungi.
Journal: Microbial biotechnology
Published: July 12, 2023
Live Cell Adhesion, Migration, and Invasion Assays.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: May 04, 2023
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 31, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Journal: Acta neuropathologica
Published: November 17, 2022
Last Updated: 09/26/2026