Domenico Barbuti
Rome, Italy
Last Updated: 09/26/2026
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Found 12 publications
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.
Journal: Journal of medical genetics
Published: June 09, 2025
Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.
Journal: Clinical genetics
Published: April 01, 2025
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Journal: Journal of medical genetics
Published: January 03, 2023
Expanding the spectrum of Gorham Stout disease exploring a single center pediatric case series.
Journal: Lymphology
Published: January 24, 2022
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor.
Journal: European journal of human genetics : EJHG
Published: September 21, 2021
Spondylodiscitis in Children: A Retrospective Study and Comparison With Non-vertebral Osteomyelitis.
Spondylodiscitis in Children: A Retrospective Study and Comparison With Non-vertebral Osteomyelitis.
Journal: Frontiers in pediatrics
Published: June 17, 2021
"Multidisciplinary management of post- infective osteoarthritis and secondary condylar resorption of temporomandibular joint: a case report in a 9 years-old female patient and a review of literature".
Journal: Italian journal of pediatrics
Published: April 17, 2021
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Journal: Clinical genetics
Published: August 07, 2019
The role of imaging in the skeletal involvement of mucopolysaccharidoses.
Journal: Italian journal of pediatrics
Published: November 17, 2018
Swollen knee due to primary synovial chondromatosis in pediatrics: a rare and possibly misdiagnosed condition.
Journal: Rheumatology international
Published: October 05, 2011
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Last Updated: 09/26/2026