Items where Author is "Pippucci, T."

Article

(2025) Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. Genome medicine. p. 38. ISSN 1756-994X (Electronic) 1756-994X (Linking)

(2024) Biallelic variants in BRF2 are associated with craniofacial anomalies and cognitive impairment. European Journal of Human Genetics. p. 61. ISSN 1018-4813

(2024) Biallelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. European Journal of Human Genetics. p. 1540. ISSN 1018-4813

(2023) Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only. Biomolecules. p. 14.

(2020) Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East. Human Genetics. pp. 1429-1441. ISSN 0340-6717