Valentina Guida

San Giovanni Rotondo, Italy

Last Updated: 09/26/2026

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Found 30 publications

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)

Published: September 15, 2025

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Journal: Genes

Published: November 29, 2024

Genotype-Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia.

Genotype-Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia.

Journal: Pediatric pulmonology

Published: May 02, 2024

Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease.

Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease.

Journal: Biomedicines

Published: February 28, 2024

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Journal: Genes

Published: June 30, 2023

Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia.

Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia.

Journal: Pediatric pulmonology

Published: March 17, 2023

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Journal: European journal of human genetics : EJHG

Published: August 19, 2022

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Journal: Nature communications

Published: April 09, 2022

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.

Journal: BMC medical genomics

Published: February 16, 2021

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Journal: Clinical genetics

Published: February 10, 2021

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

Journal: International journal of molecular sciences

Published: December 27, 2020

Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome.

Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome.

Journal: ESC heart failure

Published: December 04, 2020

Showing 1-12 of 30

Last Updated: 09/26/2026