Research output per year
Research output per year
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The fingerprint consists of automatically generated concepts related to the associated persons. It is updated automatically, when new content is added.
- 6 Similar Profiles
Collaborations from the last five years
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Klinisk genetik
Ousager, L. B., Nielsen, I. K. & Sunde, L., 30 May 2024, Medicinsk Kompendium. Hauge, E.-M., Ainsworth, M. A. & Poulsen, S. D. (eds.). 20. ed. København: Munksgaard , p. 1947-1958Research output: Contribution to book/anthology/report/conference proceeding › Book chapter › Education › peer-review
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Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency
Lautrup, C. K., Teik, K. W., Unzaki, A., Mizumoto, S., Syx, D., Sin, H. H., Nielsen, I. K., Markholt, S., Yamada, S., Malfait, F., Matsumoto, N., Miyake, N. & Kosho, T., May 2020, In: Molecular Genetics & Genomic Medicine. 8, 5, e1197.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile21 Citations (Scopus)71 Downloads (Pure) -
Når genomisk medicin bliver personlig
Nielsen, I. K., Krarup, H. B. & Pedersen, I. S., 1 Apr 2019, In: Ugeskrift for Laeger. 181, 7A, p. 688-693 6 p., V11180780.Research output: Contribution to journal › Journal article › Research › peer-review
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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Verloes, A., Haye, D., Toutain, A., Bonneau, D., Nielsen, I. K., Lund, I. B., Bogaard, P., Leenskjold, S., Karaer, K., Wild, K. T., Grand, K. L., Astiazaran, M. C., Gonzalez-Nieto, L. A., Carvalho, A., Lehalle, D., Amudhavalli, S. M., Repnikova, E., Saunders, C., Thiffault, I. & Thiffault, I. & 8 others, , Oct 2019, In: European Journal of Human Genetics. 27, Suppl. 2, p. 1517-1518 2 p.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Bhoj, E. J., Haye, D., Toutain, A., Bonneau, D., Nielsen, I. K., Lund, I. B., Bogaard, P., Leenskjold, S., Karaer, K., Wild, K. T., Grand, K. L., Astiazaran, M. C., Gonzalez-Nieto, L. A., Carvalho, A., Lehalle, D., Amudhavalli, S. M., Repnikova, E., Saunders, C., Thiffault, I. & Saadi, I. & 7 others, , Dec 2019, In: European Journal of Medical Genetics. 62, 12, 103588.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile23 Citations (Scopus)67 Downloads (Pure)