Maria J. Miranda
Clinical Associate Professor
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GABRA1-related disorders: from genetic to functional pathways
Musto, E., Liao, V. W. Y., Johannesen, K. M., Fenger, C. D., Lederer, D., Kothur, K., Fisk, K., Bennetts, B., Vrielynck, P., Delaby, D., Ceulemans, B., Weckhuysen, S., Sparber, P., Bouman, A., Ardern-Holmes, S., Troedson, C., Battaglia, D. I., Goel, H., Feyma, T., Bakhtiari, S. & 28 others, , 2024, In: Annals of Neurology. 95, 1, p. 27-41 15 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 44652539
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Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development
Research output: Contribution to journal › Journal article › Research › peer-review
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24
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Validation of Pediatric Idiopathic Generalized Epilepsy Diagnoses from the Danish National Patient Register During 1994‒2019
Research output: Contribution to journal › Journal article › Research › peer-review
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23
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The spectrum of intermediate SCN8A-related epilepsy
Research output: Contribution to journal › Journal article › Research › peer-review
Published