Mariateresa Falco
Benevento, 82100, Italy
Last Updated: 09/26/2026
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Found 20 publications
Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.
Journal: Children (Basel, Switzerland)
Published: September 17, 2025
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Journal: Genes
Published: July 17, 2025
Endocrine system involvement in patients with RASopathies: A case series.
Journal: Frontiers in endocrinology
Published: August 28, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Journal: Clinical genetics
Published: June 21, 2022
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity.
Journal: Scientific reports
Published: August 06, 2021
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
Journal: Orphanet journal of rare diseases
Published: April 19, 2021
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: February 02, 2021
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Journal: European journal of pediatrics
Published: December 28, 2020
De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.
Journal: Journal of pediatric genetics
Published: February 14, 2020
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
Journal: The application of clinical genetics
Published: November 16, 2017
SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.
Journal: Clinical genetics
Published: January 10, 2017
Last Updated: 09/26/2026