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Your search keyword '"Ortigoza Escobar, Juan Dario"' showing total 14 results

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14 results on '"Ortigoza Escobar, Juan Dario"'

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2. Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

4. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

5. A Novel AIFM1‐Related Disorder Phenotype Treated with Deep Brain Stimulation

6. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

7. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

8. Dyskinetic Crisis in GNAO1-Related Disorder: A Comprehensive International Delphi Study

12. The European Reference Network for Rare Neurological Diseases

13. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

14. Targeted next generation sequencing in patients with infantile bilateral striatal necrosis

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