Francesca Ariani

Siena, Italy

Last Updated: 09/26/2026

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Found 57 publications

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

The perfect storm: autoinflammation, metabolic stress, and thrombolysis in bilateral carotid dissection-a case report.

The perfect storm: autoinflammation, metabolic stress, and thrombolysis in bilateral carotid dissection-a case report.

Journal: Journal of neurology

Published: February 16, 2026

A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.

A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.

Journal: Genes

Published: October 31, 2025

Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence.

Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence.

Journal: Computational and structural biotechnology journal

Published: August 28, 2025

Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations.

Exploring the Role of IRF6 in Perinatal Arterial Ischemic Stroke: A Case of a Newborn with Craniofacial Malformations.

Journal: Genes

Published: January 18, 2025

Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Journal: European journal of human genetics : EJHG

Published: November 26, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Journal: European journal of human genetics : EJHG

Published: May 07, 2024

Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review.

Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review.

Journal: Genes

Published: July 20, 2023

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.

Journal: Frontiers in genetics

Published: April 27, 2023

Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.

Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.

Journal: Frontiers in genetics

Published: January 13, 2023

Showing 1-12 of 57

Last Updated: 09/26/2026