Corrado Mammi

Bianchi, 89124, Italy

Last Updated: 09/26/2026

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Found 26 publications

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Journal: Genes

Published: August 22, 2025

Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach.

Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach.

Journal: Clinical genetics

Published: November 17, 2024

Translational Research on Azacitidine Post-Remission Therapy of Acute Myeloid Leukemia in Elderly Patients (QOL-ONE Trans-2).

Translational Research on Azacitidine Post-Remission Therapy of Acute Myeloid Leukemia in Elderly Patients (QOL-ONE Trans-2).

Journal: International journal of molecular sciences

Published: September 26, 2024

Pharmacogenetics in Italy: current landscape and future prospects.

Pharmacogenetics in Italy: current landscape and future prospects.

Journal: Human genomics

Published: February 24, 2024

Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents.

Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents.

Journal: Journal of translational medicine

Published: August 17, 2023

Azacitidine Post-Remission Therapy for Elderly Patients with AML: A Randomized Phase-3 Trial (QoLESS AZA-AMLE).

Azacitidine Post-Remission Therapy for Elderly Patients with AML: A Randomized Phase-3 Trial (QoLESS AZA-AMLE).

Journal: Cancers

Published: March 01, 2023

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Journal: Human genetics

Published: February 13, 2023

Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.

Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: January 19, 2023

Behavioral profiling in children and adolescents with Malan syndrome.

Behavioral profiling in children and adolescents with Malan syndrome.

Journal: Frontiers in child and adolescent psychiatry

Published: December 12, 2022

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Journal: European journal of human genetics : EJHG

Published: November 21, 2022

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.

Journal: Genes

Published: October 25, 2022

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.

Journal: Journal of clinical medicine

Published: May 04, 2022

Showing 1-12 of 26

Last Updated: 09/26/2026