Samira Silva-Spineli
Campinas, SP, Brazil
Last Updated: 09/26/2026
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Found 8 publications
A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review.
Journal: Psychiatric genetics
Published: March 12, 2025
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.
Journal: Genes
Published: December 25, 2023
Novel variants in the SOX11 gene: clinical description of seven new patients.
Journal: European journal of human genetics : EJHG
Published: December 01, 2023
Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: May 15, 2023
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.
Journal: Congenital anomalies
Published: November 06, 2020
Genomic imbalances in craniofacial microsomia.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: October 09, 2020
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review.
Journal: European journal of medical genetics
Published: August 16, 2017
Showing 1-8 of 8
Last Updated: 09/26/2026