Andrea Bartuli
Rome, 00165, Italy
Last Updated: 09/26/2026
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Found 95 publications
Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen Individuals.
Journal: Diagnostics (Basel, Switzerland)
Published: April 27, 2026
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.
Journal: American journal of medical genetics. Part A
Published: August 19, 2025
Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.
Journal: Frontiers in genetics
Published: June 15, 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
Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication Syndrome.
Journal: Journal of developmental and behavioral pediatrics : JDBP
Published: November 30, 2024
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.
Journal: Cell reports
Published: October 24, 2024
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Journal: European journal of medical genetics
Published: August 30, 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.
Journal: Frontiers in genetics
Published: August 08, 2024
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.
Journal: Parkinsonism & related disorders
Published: April 16, 2024
Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly.
Journal: Children (Basel, Switzerland)
Published: March 25, 2024
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.
Journal: Journal of cardiovascular development and disease
Published: March 01, 2024
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.
Journal: Clinical genetics
Published: February 12, 2024
Last Updated: 09/26/2026