Research output per year
Research output per year
Research output
- 3 Journal article
Search results
-
2024
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome
Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, T. V. O., Birkedal, U., Østergaard, E. & Hove, H. B., 2024, In: American Journal of Medical Genetics. Part A. 194, 8, p. e63581 e63581.Research output: Contribution to journal › Journal article › Research › peer-review
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2023
Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
Barington, M., Dunø, M., Birkedal, U., Vissing, J., Born, A. P., Krag, T., Hansen, T. V. O. & Østergaard, E., 2023, In: Neuromuscular disorders : NMD. 33, 7, p. 539-545 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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2018
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
Barington, M., Risom, L., Ek, J., Uldall, P. & Ostergaard, E., Sept 2018, In: European journal of human genetics : EJHG. 26, 9, p. 1388-1391 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
17 Citations (Scopus)