Claudio Graziano

Cesena, 48121, Italy

Last Updated: 09/26/2026

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Found 86 publications

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.

Journal: Genes

Published: May 28, 2026

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects.

Journal: Clinical genetics

Published: May 15, 2025

Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.

Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.

Journal: Genes

Published: March 28, 2025

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Journal: Genes

Published: March 19, 2025

Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype.

Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype.

Journal: Cancers

Published: December 23, 2024

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Journal: Clinical genetics

Published: November 18, 2024

Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum.

Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum.

Journal: Cancers

Published: October 21, 2024

A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy.

A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy.

Journal: International journal of cardiology

Published: September 26, 2024

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Journal: American journal of human genetics

Published: September 13, 2024

Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.

Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.

Journal: Journal of community genetics

Published: July 24, 2024

Showing 1-12 of 86

Last Updated: 09/26/2026