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16 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

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

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

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

8. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13.

11. 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

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

13. Dorsal brain stem syndrome: MR imaging location of brain stem tegmental lesions in neonates with oral motor dysfunction.

14. Reduced neurogenesis after neonatal seizures.

15. Mendelian diseases among Roman Jews: implications for the origins of disease alleles.

16. Vigabatrin versus ACTH as first-line treatment for infantile spasms: a randomized, prospective study.

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