Beatriz Delgado-Martinez

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 62 publications

Spanish Clinical Practice Guidelines for the Diagnosis and Management of Alpha-1 Antitrypsin Deficiency: 2026 Update.

Spanish Clinical Practice Guidelines for the Diagnosis and Management of Alpha-1 Antitrypsin Deficiency: 2026 Update.

Journal: Archivos de bronconeumologia

Published: May 24, 2026

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: January 06, 2026

Decalogue of Best Practices in Alpha-1 Antitrypsin Deficiency.

Decalogue of Best Practices in Alpha-1 Antitrypsin Deficiency.

Journal: Open respiratory archives

Published: November 12, 2025

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

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

Journal: Nature communications

Published: September 23, 2025

Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.

Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.

Journal: Respiratory research

Published: September 12, 2025

PiComplutense (p.Pro393Thr): A novel SERPINA1 variant in Alpha-1 antitrypsin deficiency identified in two siblings.

PiComplutense (p.Pro393Thr): A novel SERPINA1 variant in Alpha-1 antitrypsin deficiency identified in two siblings.

Journal: Respiratory medicine case reports

Published: May 07, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: April 11, 2025

Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.

Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.

Journal: Experimental eye research

Published: October 16, 2024

Exploring the effects of tinzaparin and cisplatin on lung cancer cells in vitro.

Exploring the effects of tinzaparin and cisplatin on lung cancer cells in vitro.

Journal: Cancer cell international

Published: October 11, 2024

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Journal: Human mutation

Published: June 30, 2024

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.

Journal: Molecular neurobiology

Published: May 06, 2024

Showing 1-12 of 62

Last Updated: 09/26/2026