Jens Erik Klint Nielsen
Clinical Associate Professor
- 2022
- Published
Acute flaccid rhombencephalomyelitis with radiculitis in a child with an enterovirus A71 infection seen for the first time in Denmark: a case report
Foli-Andersen, P. J., Munkholm, A., Rønde, G., Børresen, M. L., Nielsen, Jens Erik Klint, Midgley, S. & Bang, Didi Dyveke, 2022, In: Journal of Medical Case Reports. 16, 1, 5 p., 32.Research output: Contribution to journal › Journal article › Research › peer-review
- 2021
- Published
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1
Faergeman, S. L., Bojesen, A. B., Rasmussen, M., Becher, N., Andreasen, L., Andersen, B. N., Erbs, E., Lildballe, D. L., Nielsen, Jens Erik Klint, Zilmer, M., Hammer, T. B., Andersen, M., Brasch-Andersen, C., Fagerberg, C. R., Illum, N. O., Thorup, M. B. & Gregersen, P. A., Sep 2021, In: European Journal of Medical Genetics. 64, 9, 104280.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
Oates, S., Absoud, M., Goyal, S., Bayley, S., Baulcomb, J., Sims, A., Riddett, A., Allis, K., Brasch-Andersen, C., Balasubramanian, M., Bai, R., Callewaert, B., Hüffmeier, U., Le Duc, D., Radtke, M., Korff, C., Kennedy, J., Low, K., Møller, R. S., Nielsen, J. E. K. & 15 others, , 2021, In: Clinical Genetics. 100, 4, p. 412-429Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Epilepsy features in ARID1B-related Coffin-Siris syndrome
Proietti, J., Amadori, E., Striano, P., Ricci, E., Cordelli, D. M., Bana, C., Dilena, R., Gardella, E., Nielsen, Jens Erik Klint, Pisani, F., Lo Barco, T., Fiorini, E., Fontana, E., Darra, F., Dalla Bernardina, B. & Cantalupo, G., 2021, In: Epileptic Disorders. 23, 6, p. 865-874 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- Published
Mowat-Wilson syndrome: growth charts
Ivanovski, I., Djuric, O., Broccoli, S., Caraffi, S. G., Accorsi, P., Adam, M. P., Avela, K., Badura-Stronka, M., Bayat, A., Clayton-Smith, J., Cocco, I., Cordelli, D. M., Cuturilo, G., Di Pisa, V., Dupont Garcia, J., Gastaldi, R., Giordano, L., Guala, A., Hoei-Hansen, C., Inaba, M. & 33 others, , 2020, In: Orphanet Journal of Rare Diseases. 15, 12 p., 151.Research output: Contribution to journal › Journal article › Research › peer-review
- 2019
- Published
Alice in Wonderland-syndrom kan forveksles med angst
Rasmussen, P. D., Vilmar, Janne Walløe & Nielsen, Jens Erik Klint, 2019, In: Ugeskrift for Laeger. 181, 2 p., V02190105.Research output: Contribution to journal › Letter › Research › peer-review
- 2018
- Published
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Ajmone, P. F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G. & 30 others, , 1 Sep 2018, In: Genetics in Medicine. 20, 9, p. 965-975 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Ajmone, P. F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G. & 60 others, , 2018, In: Genetics In Medicine. 20, 9, p. 965-975Research output: Contribution to journal › Journal article › Research › peer-review
- 2016
- 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
- 2015
- 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
ID: 921236
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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
Research output: Contribution to journal › Journal article › Research › peer-review
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