Paola Concolino

Rome, 00168, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 84 publications

Inherited Platelet GPIV Deficiency: First Description of a Series of Unrelated Patients with Bleeding Diathesis.

Inherited Platelet GPIV Deficiency: First Description of a Series of Unrelated Patients with Bleeding Diathesis.

Journal: Biomolecules

Published: July 23, 2026

Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer.

Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer.

Journal: International journal of molecular sciences

Published: April 01, 2026

Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study.

Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study.

Journal: Genes

Published: July 22, 2025

GAPO syndrome: a comprehensive examination and review of 105 clinical cases.

GAPO syndrome: a comprehensive examination and review of 105 clinical cases.

Journal: Journal of medical genetics

Published: April 25, 2025

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.

Journal: Journal of the Endocrine Society

Published: November 25, 2024

Adrenocortical tumors and hereditary syndromes.

Adrenocortical tumors and hereditary syndromes.

Journal: Expert review of endocrinology & metabolism

Published: November 21, 2024

Evidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association.

Evidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association.

Journal: Experimental dermatology

Published: August 10, 2024

Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease.

Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease.

Journal: Journal of clinical medicine

Published: June 27, 2024

Phenotypic presentation of MEN1 c.758delC (p.Ser253Cysfs *28) pathogenic variant: a case report.

Phenotypic presentation of MEN1 c.758delC (p.Ser253Cysfs *28) pathogenic variant: a case report.

Journal: Oxford medical case reports

Published: April 23, 2024

Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene.

Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene.

Journal: Current issues in molecular biology

Published: April 14, 2024

An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B.

An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B.

Journal: Journal of thrombosis and haemostasis : JTH

Published: March 07, 2024

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.

Journal: Annals of laboratory medicine

Published: January 25, 2024

Showing 1-12 of 84

Last Updated: 09/26/2026