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Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.
Am J Med Genet A. 2024 Apr 11:e63581. doi: 10.1002/ajmg.a.63581. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38600862
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 AP, Krag T, Hansen TVO, Østergaard E.
Barington M, et al.
Neuromuscul Disord. 2023 Jul;33(7):539-545. doi: 10.1016/j.nmd.2023.05.007. Epub 2023 May 24.
Neuromuscul Disord. 2023.
PMID: 37315421
Free article.
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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.
Barington M, et al.
Eur J Hum Genet. 2018 Sep;26(9):1388-1391. doi: 10.1038/s41431-018-0184-5. Epub 2018 May 24.
Eur J Hum Genet. 2018.
PMID: 29795476
Free PMC article.
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Ghrelin-mediated inhibition of the TSH-stimulated function of differentiated human thyrocytes ex vivo.
Barington M, Brorson MM, Hofman-Bang J, Rasmussen ÅK, Holst B, Feldt-Rasmussen U.
Barington M, et al.
PLoS One. 2017 Sep 20;12(9):e0184992. doi: 10.1371/journal.pone.0184992. eCollection 2017.
PLoS One. 2017.
PMID: 28931076
Free PMC article.
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