Maria J. Miranda
Clinical Associate Professor
- 2015
- Published
Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn
Christiansen, S., Roos, L. K. S. & Miranda, Maria J., 28 Sep 2015, In: Ugeskrift for Laeger. 177, 40, p. V05150380Research output: Contribution to journal › Journal article › Research › peer-review
- Published
TARGETED NEXT GENERATION SEQUENCING AS A DIAGNOSTIC TOOL IN 163 PATIENTS WITH EPILEPTIC ENCEPHALOPATHIES
Dahl, H. A., Larsen, L. H. G., Olofsson, K., Miranda, M., Nielsen, J. E. K., Lavard, L., Linnet, K., Uldall, P., Talvik, T., Talvik, I., Frangu, M., Born, P., Gellert, P., Nikanorova, M., Jepsen, B., Marjanovic, D., Kragh-Olsen, B., Mosbech, M. -B., Hao, Q., Brusgaard, K. & 2 others, , Dec 2015, In: Epilepsia. 56, Supplement S1, p. 72-73Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
- Published
Effectiveness of the ketogenic diet used to treat resistant childhood epilepsy in Scandinavia
Hallböök, T., Sjölander, A., Åmark, P., Miranda, Maria J., Bjurulf, B. & Dahlin, M., Jan 2015, In: European Journal of Paediatric Neurology. 19, 1, p. 29-36 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Akut dissemineret encefalomyelitis er en vigtig differentialdiagnose hos det akut påvirkede barn
Olofsson, I. A., Skov, L. & Miranda, Maria J., 13 Jul 2015, In: Ugeskrift for Laeger. 177, 29, p. 2-3 V10140549.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Demyeliniserende sygdom hos børn med akutte neurologiske symptomer
Olofsson, I. A., Skov, L. & Miranda, Maria J., 2015, In: Ugeskrift for Laeger. 177, p. 2-6 5 p., V07150587.Research output: Contribution to journal › Journal article › Research › peer-review
- 2016
- Published
Algoritme til diagnosticering af slapt spædbarn
Christiansen, S. & Miranda, Maria J., 2 May 2016, In: Ugeskrift for Laeger. 178, 9, p. 867-71 5 p., V05150378.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling
Grønborg, S., Darin, N., Miranda, Maria J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, Elsebet, 2016, JIMD Reports. Vol. 33. p. 69-77 9 p. (JIMD Reports).Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
- Published
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
Jespersgaard, C., Damgaard, I. N., Cornelius, N., Bache, Iben, Knabe, N., Miranda, Maria J. & Tümer, Asuman Zeynep, 2016, In: Molecular Cytogenetics. 9, 7 p., 11.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val
Johannesen, K. M. H., Miranda, Maria J., Lerche, H. & Møller, R. S., 2016, In: Journal of Neurology. 263, 7, p. 1459-1460 2 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
- Published
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies
Møller, R. S., Larsen, L. H. G., Johannesen, K. M., Talvik, I., Talvik, T., Vaher, U., Miranda, M. J., Farooq, M., Nielsen, J. E. K., Svendsen, L. L., Kjelgaard, D. B., Linnet, K. M., Hao, Q., Uldall, P., Frangu, M., Tommerup, N., Baig, S. M., Abdullah, U., Born, A. P., Gellert, P. & 12 others, , Sep 2016, In: Molecular Syndromology. 7, 4, p. 210-219 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 44652539
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236
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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
Published -
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
Published -
23
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The spectrum of intermediate SCN8A-related epilepsy
Research output: Contribution to journal › Journal article › Research › peer-review
Published