Elena Arumi-Garcia
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 54 publications
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 06, 2025
Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.
Journal: Neurology. Genetics
Published: July 11, 2025
Expanding the clinical phenotype and understanding the biochemical consequences of Muscle Glycogen Synthase Deficiency (GSD0B).
Journal: Molecular genetics and metabolism
Published: November 25, 2024
Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).
Journal: International journal of molecular sciences
Published: August 31, 2024
Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.
Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: August 29, 2024
Left ventricular cardiomyopathy due to CPT II hereditary deficiency. Keys to an infrequent diagnosis.
Journal: Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology
Published: August 22, 2024
Case Report: Androgenetic/biparental chimera with two biparental cell lines leading to placental mesenchymal dysplasia: a possible novel mechanism of formation.
Journal: Human reproduction (Oxford, England)
Published: July 25, 2024
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 22, 2024
Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
Journal: International journal of molecular sciences
Published: July 05, 2024
Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.
Journal: Journal of clinical medicine
Published: May 09, 2024
Last Updated: 09/26/2026