Paula Alvarez-Fernandez

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 38 publications

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2.

Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2.

Journal: Journal of clinical research in pediatric endocrinology

Published: August 11, 2025

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.

Journal: Journal of clinical immunology

Published: June 27, 2025

Infarct-like myocarditis in adolescents: Exploring genetic insights from diagnosis through follow-up.

Infarct-like myocarditis in adolescents: Exploring genetic insights from diagnosis through follow-up.

Journal: International journal of cardiology

Published: March 12, 2025

De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency.

De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency.

Journal: Frontiers in immunology

Published: December 23, 2024

Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI.

Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI.

Journal: BMC endocrine disorders

Published: December 09, 2024

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Journal: Clinical genetics

Published: October 02, 2024

Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.

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 ejection fraction decline and cardiovascular events in suspected cardiomyopathy with excessive trabeculation: toward precision medicine.

Left ventricular ejection fraction decline and cardiovascular events in suspected cardiomyopathy with excessive trabeculation: toward precision medicine.

Journal: Revista espanola de cardiologia (English ed.)

Published: August 26, 2024

Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature.

Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 09, 2024

New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.

New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.

Journal: American journal of medical genetics. Part A

Published: April 08, 2024

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Journal: Journal of medical genetics

Published: January 08, 2024

Showing 1-12 of 38

Last Updated: 09/26/2026