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Epigenetics & Chromatin|January 8, 2014
Telomere shortening and telomere position effect in mild ring 17 syndromeCecilia Surace, Francesco Berardinelli, Andrea Masotti, et al.
Journal of Cardiovascular Development and Disease|April 26, 2024
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary CareAnwar Baban, Giovanni Parlapiano, Marianna Cicenia, et al.
Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Frontiers in Genetics|February 20, 2026
Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilitiesSilvia Guerrera, Ilaria Venezia, Maria Grazia Logrieco, et al.
Vaccine|January 25, 2014
Yellow fever vaccine-associated adverse events following extensive immunization in ArgentinaCristián Biscayart, María Eugenia Pérez Carrega, Sandra Sagradini, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|September 18, 2022
Treatment with THI, an inhibitor of sphingosine-1-phosphate lyase, modulates glycosphingolipid metabolism and results therapeutically effective in experimental models of Huntington's diseaseGiuseppe Pepe, Luca Capocci, Federico Marracino, et al.
Parkinsonism & Related Disorders|July 27, 2024
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenologyGiacomo Garone, Alice Innocenti, Melissa Grasso, et al.
Diagnostics (Basel, Switzerland)|March 27, 2024
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos SyndromeGiulio Calcagni, Federica Ferrigno, Alessio Franceschini, et al.
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