Elisabetta Flex
Rome, Italy
Last Updated: 09/26/2026
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Found 51 publications
Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.
Journal: Orphanet journal of rare diseases
Published: November 21, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Journal: Breast (Edinburgh, Scotland)
Published: September 15, 2025
Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa.
Journal: International journal of molecular sciences
Published: July 24, 2025
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.
Journal: European journal of human genetics : EJHG
Published: January 09, 2025
Brain malformations and seizures by impaired chaperonin function of TRiC.
Journal: Science (New York, N.Y.)
Published: October 31, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Journal: HGG advances
Published: June 06, 2024
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.
Journal: The Journal of pathology
Published: November 08, 2023
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Journal: American journal of medical genetics. Part A
Published: October 23, 2023
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 13, 2023
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes.
Journal: International journal of molecular sciences
Published: March 07, 2023
Last Updated: 09/26/2026