Associated Papers
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.
Marinakis NM et al.
Clinical Genetics, 2026
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E et al.
Molecular Genetics & Genomic Medicine, 2024
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort.
Sönmezler E et al.
Human Mutation, 2024
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