Niels Tommerup

Niels Tommerup

Professor, dr.med., Professor


Publication year:
All
1 - 10 out of 272Page size: 10
  1. 2023
  2. Published

    PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)

    Cossu, A., Santos, J. L., Galati, G., Nikanorova, M., Costa, P., Mang, Y., Silahtaroglu, Asli, Rubboli, Guido, Tommerup, Niels, Dalla Bernardina, B., Møller, R. S., Cantalupo, G. & Gardella, E., 2023, In: Neurological Sciences. 44, 6, p. 2173-2176 4 p.

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

  3. 2022
  4. Published

    Does rapid sequence divergence preclude RNA structure conservation in vertebrates?

    Seemann, Ernst Stefan, Mirza, A. H., Bang-Berthelsen, C. H., Garde, C., Christensen-Dalsgaard, M., Workman, C. T., Pociot, Flemming, Tommerup, Niels, Gorodkin, Jan & Ruzzo, W. L., 2022, In: Nucleic Acids Research. 50, 5, p. 2452-2463 12 p.

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

  5. Published

    Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

    Rendtorff, N. D., Karstensen, H. G., Lodahl, M., Tolmie, J., McWilliam, C., Bak, M., Tommerup, Niels, Nazaryan, Lusine, Kunst, H., Wong, M., Joss, S., Carelli, V. & Tranebjærg, Lisbeth, 2022, In: Scientific Reports. 12, 14959.

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

  6. Published

    Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

    Schöpflin, R., Melo, U. S., Moeinzadeh, H., Heller, D., Laupert, V., Hertzberg, J., Holtgrewe, M., Alavi, N., Klever, M. K., Jungnitsch, J., Comak, E., Türkmen, S., Horn, D., Duffourd, Y., Faivre, L., Callier, P., Sanlaville, D., Zuffardi, O., Tenconi, R., Kurtas, N. E., Giglio, S., Prager, B., Latos-Bielenska, A., Vogel, I., Bugge, Merete, Tommerup, Niels, Spielmann, M., Vitobello, A., Kalscheuer, V. M., Vingron, M. & Mundlos, S., 2022, In: Nature Communications. 13, 6470.

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

  7. Published

    Rare pathogenic variants in genes of glutamatergic neurotransmission pathway segregate with schizophrenia in Pakistani families

    Fatima, A., Abdullah, U., Farooq, M., Ali, Z., Mang, Y., Mehrjouy, M. M., Tommerup, Niels & Baig, S. M., 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 276-276 1 p., P09.052.A.

    Research output: Contribution to journal › Conference abstract in journal

  8. 2021
  9. Published

    A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review

    Faryal, S., Farooq, M., Abdullah, U., Ali, Z., Saadi, S. M., Ullah, F., Khan, K., Sarwar, Y., Sher, M., Chopra, A. A., Tommerup, Niels & Baig, S. M., 2021, In: European Journal of Medical Genetics. 64, 7, 104226.

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

  10. Published

    Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients

    Bliddal, S., Banasik, Karina, Pedersen, Ole Birger Vesterager, Nissen, J., Cantwell, Lisa, Schwinn, M., Tulstrup, M., Westergaard, David, Ullum, H., Brunak, Søren, Tommerup, Niels, Feenstra, B., Geller, F., Ostrowski, Sisse Rye, Grønbæk, Kirsten, Nielsen, Claus Henrik, Nielsen, Susanne Dam & Feldt-Rasmussen, Ulla, 2021, In: Scientific Reports. 11, 13153.

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

  11. Published

    Article rare pathogenic variants in genes implicated in glutamatergic neurotransmission pathway segregate with schizophrenia in pakistani families

    Fatima, A., Abdullah, U., Farooq, M., Mang, Y., Mehrjouy, M. M., Asif, M., Ali, Z., Tommerup, Niels & Baig, S. M., 2021, In: Genes. 12, 12, 1899.

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

  12. 2020
  13. Published

    A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

    Bache, Iben, Wadt, Karin Anna Wallentin, Mehrjouy, M. M., Rossing, M., Østrup, O., Byrjalsen, A., Tommerup, Niels, Metzner, M., Vyas, P., Schmiegelow, Kjeld, Lausen, B. & Andersen, M. K., 2020, In: Blood Cancer Journal. 10, 3, 4 p., 27.

    Research output: Contribution to journal › Letter › peer-review

  14. Published

    Chromothripsis and DNA Repair Disorders

    Nazaryan, Lusine, Bjerregaard, V. A., Nielsen, Finn Cilius, Tommerup, Niels & Tümer, Asuman Zeynep, 2020, In: Journal of Clinical Medicine. 9, 3, 9 p., 613.

    Research output: Contribution to journal › Review › peer-review

Previous 1 2 3 4 5 6 7 8 ...28 Next

ID: 5189