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Page 1
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26.
Am J Hum Genet. 2024.
PMID: 38412861
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Wolfe K, McQuillin A, Alesi V, Boudry Labis E, Cutajar P, Dallapiccola B, Dentici ML, Dieux-Coeslier A, Duban-Bedu B, Duelund Hjortshøj T, Goel H, Loddo S, Morrogh D, Mosca-Boidron AL, Novelli A, Olivier-Faivre L, Parker J, Parker MJ, Patch C, Pelling AL, Smol T, Tümer Z, Vanakker O, van Haeringen A, Vanlerberghe C, Strydom A, Skuse D, Bass N.
Wolfe K, et al. Among authors: duelund hjortshoj t.
Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):397-405. doi: 10.1002/ajmg.b.32627. Epub 2018 Mar 31.
Am J Med Genet B Neuropsychiatr Genet. 2018.
PMID: 29603867
Free PMC article.
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Triple trouble: uncovering the risks and benefits of early fetal reduction in trichorionic triplets in a large national Danish cohort study.
Kristensen SE, Kvist Ekelund C, Sandager P, Stener Jørgensen F, Hoseth E, Sperling L, Zingenberg HJ, Duelund Hjortshøj T, Gadsbøll K, Wright A, Wright D, McLennan A, Sundberg K, Petersen OB.
Kristensen SE, et al. Among authors: duelund hjortshoj t.
Am J Obstet Gynecol. 2023 Nov;229(5):555.e1-555.e14. doi: 10.1016/j.ajog.2023.05.029. Epub 2023 May 30.
Am J Obstet Gynecol. 2023.
PMID: 37263399
Free article.
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Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.
Trimouille A, Tingaud-Sequeira A, Lacombe D, Duelund Hjortshøj T, Kreiborg S, Buciek Hove H, Rooryck C.
Trimouille A, et al. Among authors: duelund hjortshoj t.
Clin Genet. 2020 Oct;98(4):384-389. doi: 10.1111/cge.13811.
Clin Genet. 2020.
PMID: 32639022
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