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18 results on '"Alonso-Luengo, Olga"'

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1. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

2. Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

3. Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

4. Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

5. Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

6. Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

7. Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

8. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: results from the international TOSCA study

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

12. Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

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

14. Tratamiento combinado con fármacos antiepilépticos. Guía Andaluza de Epilepsia 2015

15. Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

16. Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

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