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
3. Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia
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
9. Corrigendum: Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy
10. Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy
11. Editorial: Pediatric Neurometabolic Disorders
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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