Agnese Feresin

Villa Vicentina, 33059, Italy

Last Updated: 09/26/2026

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Found 22 publications

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

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases.

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases.

Journal: Prenatal diagnosis

Published: June 20, 2025

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Journal: Pediatric neurology

Published: February 15, 2025

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

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.

Journal: Biomolecules

Published: August 28, 2024

Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants.

Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants.

Journal: Stem cell reports

Published: June 15, 2024

Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review.

Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review.

Journal: Genes

Published: April 29, 2024

COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.

COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.

Journal: Molecular genetics & genomic medicine

Published: January 03, 2024

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Journal: European journal of human genetics : EJHG

Published: September 03, 2023

Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.

Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: July 06, 2023

The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles.

The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles.

Journal: Prenatal diagnosis

Published: February 17, 2023

Showing 1-12 of 22

Last Updated: 09/26/2026