Consolata Soddu
Cagliari, 09121, Italy
Last Updated: 09/26/2026
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Found 10 publications
Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.
Journal: International journal of molecular sciences
Published: December 27, 2025
Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7.
Journal: Genes
Published: January 20, 2025
A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report.
Journal: Frontiers in pediatrics
Published: December 21, 2024
PPP2R5D-Related Neurodevelopmental Disorder and Multiple Haemangiomas: A Novel Phenotypic Trait?
Journal: Pediatric reports
Published: October 16, 2024
Vascular Abnormalities and Neurofibromatosis Type 1: A Paediatric Case Series.
Journal: Journal of child neurology
Published: October 09, 2024
Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review.
Journal: Frontiers in pediatrics
Published: July 06, 2024
Wilson's disease in Sardinian population: The experience of a pediatric referral center.
Journal: Journal of pediatric gastroenterology and nutrition
Published: May 22, 2024
Unusual Inconsolable Crying: An Insight, Case Report, and Review of the Literature on the Pitt-Hopkins Gastrointestinal Phenotype.
Journal: Cureus
Published: August 20, 2023
Neuroimaging Changes in Menkes Disease, Part 1.
Journal: AJNR. American journal of neuroradiology
Published: May 13, 2017
Showing 1-10 of 10
Last Updated: 09/26/2026