Noelia Redon-Baz

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 13 publications

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.

Journal: The European respiratory journal

Published: April 08, 2025

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).

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

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

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

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Journal: Cells

Published: February 02, 2024

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Journal: Frontiers in endocrinology

Published: January 09, 2024

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.

Journal: The Journal of clinical endocrinology and metabolism

Published: December 16, 2022

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.

Journal: Frontiers in endocrinology

Published: May 31, 2022

Incidence and Prevalence of Children's Diffuse Lung Disease in Spain.

Incidence and Prevalence of Children's Diffuse Lung Disease in Spain.

Journal: Archivos de bronconeumologia

Published: March 23, 2021

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

Journal: Journal of clinical medicine

Published: October 20, 2020

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 31, 2020

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.

Journal: Archivos de bronconeumologia

Published: January 12, 2020

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Journal: Frontiers in immunology

Published: July 26, 2019

Showing 1-12 of 13

Last Updated: 09/26/2026