Titolo | Pubblicato in | Anno |
---|---|---|
Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study | FRONTIERS IN BIOINFORMATICS | 2024 |
Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow-up | CLINICAL GENETICS | 2022 |
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