6 results on '"Bargiacchi, Sara"'
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2. Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
3. Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM)
4. Case report of an atypical early onset X-linked retinoschisis in monozygotic twins
5. Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites
6. p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
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