Alessandra Zulian

Rovereto, 38068, Italy

Last Updated: 09/26/2026

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Found 19 publications

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Journal: American journal of human genetics

Published: March 27, 2022

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.

Journal: Genes

Published: October 27, 2021

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Journal: Investigative ophthalmology & visual science

Published: February 12, 2021

Ablation of collagen VI leads to the release of platelets with altered function.

Ablation of collagen VI leads to the release of platelets with altered function.

Journal: Blood advances

Published: January 26, 2021

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Journal: Journal of clinical medicine

Published: September 18, 2020

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.

Journal: Frontiers in endocrinology

Published: September 11, 2020

Genetic test for the prescription of diets in support of physical activity.

Genetic test for the prescription of diets in support of physical activity.

Journal: Acta bio-medica : Atenei Parmensis

Published: September 03, 2020

Analysis of machine learning algorithms as integrative tools for validation of next generation sequencing data.

Analysis of machine learning algorithms as integrative tools for validation of next generation sequencing data.

Journal: European review for medical and pharmacological sciences

Published: October 11, 2019

Monogenic hypertension.

Monogenic hypertension.

Journal: Acta bio-medica : Atenei Parmensis

Published: August 06, 2019

The Link of the Prion Protein with Ca2+ Metabolism and ROS Production, and the Possible Implication in Aβ Toxicity.

The Link of the Prion Protein with Ca2+ Metabolism and ROS Production, and the Possible Implication in Aβ Toxicity.

Journal: International journal of molecular sciences

Published: July 30, 2019

CRB1-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes.

CRB1-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes.

Journal: Journal of pediatric ophthalmology and strabismus

Published: July 16, 2019

Vascular anomalies: molecular bases, genetic testing and therapeutic approaches.

Vascular anomalies: molecular bases, genetic testing and therapeutic approaches.

Journal: International angiology : a journal of the International Union of Angiology

Published: April 03, 2019

Showing 1-12 of 19

Last Updated: 09/26/2026