Angel Zuniga

Valencia, VC 46026, Spain

Last Updated: 09/26/2026

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Found 22 publications

The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.

The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.

Journal: Cancers

Published: January 04, 2023

Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.

Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.

Journal: Orphanet journal of rare diseases

Published: September 22, 2022

Five new mutations in the PROS1 gene associated with protein S deficiency in Polish patients screened for thrombophilia: efficacy of direct oral anticoagulant treatment.

Five new mutations in the PROS1 gene associated with protein S deficiency in Polish patients screened for thrombophilia: efficacy of direct oral anticoagulant treatment.

Journal: Polish archives of internal medicine

Published: September 17, 2021

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.

Journal: Frontiers in immunology

Published: November 03, 2020

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

Journal: Cancers

Published: October 02, 2020

Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.

Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.

Journal: Clinical genetics

Published: July 02, 2020

Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management.

Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management.

Journal: Journal of thrombosis and thrombolysis

Published: February 16, 2020

Next generation sequencing in bleeding disorders: two novel variants in the F5 gene (Valencia-1 and Valencia-2) associated with mild factor V deficiency.

Next generation sequencing in bleeding disorders: two novel variants in the F5 gene (Valencia-1 and Valencia-2) associated with mild factor V deficiency.

Journal: Journal of thrombosis and thrombolysis

Published: July 04, 2019

Clinical and molecular characterization by next generation sequencing of Spanish patients affected by congenital deficiencies of fibrinogen.

Clinical and molecular characterization by next generation sequencing of Spanish patients affected by congenital deficiencies of fibrinogen.

Journal: Thrombosis research

Published: April 12, 2019

Clinical significance of epithelial-mesenchymal transition-related markers expression in the micrometastatic sentinel lymph node of NSCLC.

Clinical significance of epithelial-mesenchymal transition-related markers expression in the micrometastatic sentinel lymph node of NSCLC.

Journal: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico

Published: January 11, 2019

Familial hyperaldosteronism type III a novel case and review of literature.

Familial hyperaldosteronism type III a novel case and review of literature.

Journal: Reviews in endocrine & metabolic disorders

Published: December 21, 2018

Letter to the Editor.

Letter to the Editor.

Journal: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico

Published: May 03, 2018

Showing 1-12 of 22

Last Updated: 09/26/2026