Lucia Tiberi

Florence, 50139, Italy

Last Updated: 09/26/2026

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Found 14 publications

CDH3 Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary Insights.

CDH3 Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary Insights.

Journal: Journal of clinical medicine

Published: May 08, 2026

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Journal: American journal of medical genetics. Part A

Published: August 05, 2025

Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age group.

Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age group.

Journal: Ophthalmic genetics

Published: March 05, 2025

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Journal: Endocrine connections

Published: June 14, 2024

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Journal: Science (New York, N.Y.)

Published: April 25, 2024

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.

Journal: Ophthalmic genetics

Published: April 09, 2024

Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.

Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.

Journal: HemaSphere

Published: January 05, 2024

Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.

Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.

Journal: Scientific reports

Published: January 02, 2024

PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.

PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.

Journal: American journal of hematology

Published: October 23, 2022

A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.

A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 05, 2022

Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

Journal: International journal of molecular sciences

Published: May 14, 2022

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Journal: International journal of molecular sciences

Published: March 30, 2022

Showing 1-12 of 14

Last Updated: 09/26/2026