Chiara De Luca
L'aquila, Italy
Last Updated: 09/26/2026
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Found 21 publications
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.
Journal: American journal of medical genetics. Part A
Published: August 05, 2025
Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.
Journal: Journal of endocrinological investigation
Published: July 18, 2025
Occurrence of multiple melanomas in a patient with punctate palmoplantar keratoderma type-1A associated to alpha and gamma adaptin binding protein.
Journal: JAAD case reports
Published: June 10, 2025
Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.
Journal: American journal of medical genetics. Part A
Published: October 05, 2024
Sinus of Valsalva Aneurysm Is a Major Feature of FLNA (Filamin A) Loss-of-Function Variants.
Journal: JACC. Case reports
Published: September 16, 2024
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Journal: Clinical genetics
Published: May 03, 2024
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: March 11, 2024
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Journal: European journal of human genetics : EJHG
Published: October 21, 2022
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Journal: HGG advances
Published: November 29, 2021
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Journal: Human molecular genetics
Published: October 13, 2021
Last Updated: 09/26/2026