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Andrea La Barbera

azienda ospedaliera universitaria (aou) meyer
H指数:6
被引数:103

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Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies
2024-09-090
OAAI
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family
2024-06-140
PRE
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
2024-05-011
PRE
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
2023-11-132
OAAI
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy)
2023-06-153
OAAI
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
2020-12-1816
OAAI