Alessandra Terracciano

Rome, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 43 publications

Hydranencephaly Secondary to Placental Fetal Vascular Malperfusion in a Pregnancy with Extensive Uterine Fibromatosis.

Hydranencephaly Secondary to Placental Fetal Vascular Malperfusion in a Pregnancy with Extensive Uterine Fibromatosis.

Journal: Fetal and pediatric pathology

Published: July 28, 2026

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene.

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene.

Journal: Clinical case reports

Published: November 02, 2025

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: August 06, 2025

Cardiac complications in autosomal dominant polycystic kidney disease: links to genotype and CKD severity.

Cardiac complications in autosomal dominant polycystic kidney disease: links to genotype and CKD severity.

Journal: Clinical kidney journal

Published: April 07, 2025

Uniparental isodisomy of chromosome 1 involving NPHS2 in steroid-resistant nephrotic syndrome with renal failure.

Uniparental isodisomy of chromosome 1 involving NPHS2 in steroid-resistant nephrotic syndrome with renal failure.

Journal: European journal of medical genetics

Published: March 07, 2025

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Journal: Clinical genetics

Published: January 07, 2025

Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.

Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.

Journal: Epilepsia

Published: December 20, 2024

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

Journal: American journal of medical genetics. Part A

Published: November 11, 2024

Infantile epileptic spasms syndrome: When spasms come out of the blue.

Infantile epileptic spasms syndrome: When spasms come out of the blue.

Journal: Epilepsy & behavior : E&B

Published: July 24, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.

Journal: Seizure

Published: May 28, 2024

A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.

A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.

Journal: Genes

Published: March 29, 2024

Showing 1-12 of 43

Last Updated: 09/26/2026