Francesca Peluso
Reggio Nell'emilia, Italy
Last Updated: 09/26/2026
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Found 23 publications
Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy Findings.
Journal: Fetal and pediatric pathology
Published: March 04, 2026
Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.
Journal: Journal of clinical medicine
Published: October 29, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: December 19, 2024
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.
Journal: European journal of human genetics : EJHG
Published: December 05, 2024
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.
Journal: Neurogenetics
Published: October 31, 2024
An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature.
Journal: European child & adolescent psychiatry
Published: May 25, 2024
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.
Journal: American journal of medical genetics. Part A
Published: May 06, 2024
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature.
Journal: Genes
Published: July 19, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 26, 2023
Last Updated: 09/26/2026