Marina Goldoni
San Giovanni Rotondo, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 18 publications
Autism spectrum disorder and 3p24.3p23 triplication: a case report.
Journal: Journal of medical case reports
Published: May 05, 2024
Genotype-Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia.
Journal: Pediatric pulmonology
Published: May 02, 2024
A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.
Journal: Pediatric dermatology
Published: February 21, 2024
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
Journal: Genes
Published: October 20, 2023
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Journal: Diagnostics (Basel, Switzerland)
Published: November 04, 2022
3'UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.
Journal: Diagnostics (Basel, Switzerland)
Published: August 12, 2022
Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.
Journal: Frontiers in genetics
Published: April 20, 2022
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
Journal: American journal of medical genetics. Part A
Published: February 14, 2022
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Journal: Clinical genetics
Published: February 10, 2021
Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability.
Journal: Diagnostics (Basel, Switzerland)
Published: October 28, 2020
Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene.
Journal: Stem cell research
Published: June 03, 2020
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.
Journal: Journal of pediatric genetics
Published: May 27, 2020
Last Updated: 09/26/2026