Maria T. Bonati

Trieste, 34137, Italy

Last Updated: 09/26/2026

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Found 52 publications

A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease.

A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease.

Journal: International journal of molecular sciences
Published: June 03, 2026

Exploring the Clinical and Psychosocial Impact of Genetic Diagnosis in Congenital Hearing Loss: A Comparative Study Between Syndromic and Non-Syndromic Conditions.

Exploring the Clinical and Psychosocial Impact of Genetic Diagnosis in Congenital Hearing Loss: A Comparative Study Between Syndromic and Non-Syndromic Conditions.

Journal: Children (Basel, Switzerland)
Published: May 06, 2026

Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.

Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.

Journal: Genes
Published: August 06, 2025

Listening Effort and Its Relation to Spatial Localization, and Vestibular and Visual Impairment in Usher Syndrome-Our Experience.

Listening Effort and Its Relation to Spatial Localization, and Vestibular and Visual Impairment in Usher Syndrome-Our Experience.

Journal: Audiology research
Published: May 08, 2025

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review.

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review.

Journal: Genes
Published: April 19, 2025

The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial disease.

The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial disease.

Journal: Mitochondrion
Published: April 16, 2025

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

Journal: Genes
Published: April 10, 2025

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

Journal: International journal of molecular sciences
Published: February 26, 2025

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

Journal: International journal of molecular sciences
Published: December 04, 2024

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Journal: Clinical genetics
Published: November 18, 2024

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.

Journal: American journal of medical genetics. Part A
Published: September 24, 2024

A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.

A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.

Journal: Genes
Published: August 21, 2024
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Last Updated: 09/26/2026