Latest Publications

Inactivation of GaIU leads to a cell wall-associated polysaccharide defect that reduces the susceptibility of Enterococcus faecalis to bacteriolytic agents

Novel mutations in AIFM1 gene associated with X-linked deafness in a Moroccan family

Radixin modulates the function of outer hair cell stereocilia

Screening Strategies for Deafness Genes and Functional Outcomes in Cochlear Implant Patients

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis

Genetics cause of heterogeneous inherited myopathies in a cohort of Greek patients

A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.

A Specialized Niche in the Pancreatic Microenvironment Promotes Endocrine Differentiation

Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B

Genetic spectrum of retinal dystrophies in Tunisia

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopietic dysfunction