Maria J. Miranda

Maria J. Miranda

Clinical Associate Professor

Member of:

  • Paediatrics


Publication year:
All
1 - 5 out of 5Page size: 10
  1. 2016
  2. 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, Nikanorova, M., Olofsson, K., Jepsen, B., Marjanovic, D., Al-Zehhawi, L. I. K., Peñalva, S. J., Krag-Olsen, B., Brusgaard, K., Hjalgrim, H., Rubboli, G., Pal, D. K. & Dahl, H. A., Sep 2016, In: Molecular Syndromology. 7, 4, p. 210-219 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. 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

  4. 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

  5. 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

  6. 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

ID: 44652539