Maria C. Cutrupi
Via Consolare Valeria 1
Messina, 98125, Italy
Messina, 98125, Italy
Last Updated: 09/26/2026
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Found 15 publications
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.
Journal: Brain sciences
Published: May 28, 2021
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
Journal: International journal of molecular sciences
Published: April 04, 2021
Genetics and cardiovascular disease.
Journal: Journal of biological regulators and homeostatic agents
Published: October 01, 2020
Congenital heart disease in Down Syndrome.
Journal: Journal of biological regulators and homeostatic agents
Published: October 01, 2020
Cardiac defects in RASopathies: a review of genotype- phenotype correlations.
Journal: Journal of biological regulators and homeostatic agents
Published: October 01, 2020
Ureterocystoplasty (bladder augmentation) in a 16 year-old boy with Goldenhar syndrome.
Journal: Journal of biological regulators and homeostatic agents
Published: October 22, 2019
Renal anomalies in newborns with vacterel association: case series and literature review.
Journal: Journal of biological regulators and homeostatic agents
Published: October 22, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Journal: American journal of human genetics
Published: October 10, 2018
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Journal: Human mutation
Published: July 14, 2017
Neuroinflammation in Autism Spectrum Disorders: Role of High Mobility Group Box 1 Protein.
Journal: International journal of molecular and cellular medicine
Published: July 07, 2017
Last Updated: 09/26/2026