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Medrxiv : the Preprint Server for Health Sciences, 2025
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Supplement: media-1.xlsx › Supplementary_Table_3
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
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CASP9 germline mutation in a family with multiple brain tumors.
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Brain Pathology (zurich, Switzerland), 2018
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