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Your search keyword '"Cilio, M. R."' showing total 10 results

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10 results on '"Cilio, M. R."'

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1. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

2. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

4. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

5. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

9. A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

10. Autism and developmental disability caused by KCNQ3 gain-of-function variants

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