Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
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Frontiers in Endocrinology, 2025
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Supplement: Table4.xlsx › sheet1
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
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