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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Eur J Hum Genet. 2016 Dec;24(12):1739-1745. doi: 10.1038/ejhg.2016.90. Epub 2016 Jul 20.
Eur J Hum Genet. 2016.
PMID: 27436265
Free PMC article.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Windheuser IC, Becker J, Cremer K, Hundertmark H, Yates LM, Mangold E, Peters S, Degenhardt F, Ludwig KU, Zink AM, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom TM, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H.
Windheuser IC, et al.
Am J Med Genet A. 2020 May;182(5):1021-1031. doi: 10.1002/ajmg.a.61515. Epub 2020 Feb 17.
Am J Med Genet A. 2020.
PMID: 32065501
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[On the fast track to diagnosis : Recommendations for patients without a diagnosis].
Stieber C, Mücke M, Windheuser IC, Grigull L, Klawonn F, Tunc S, Münchau A, Klockgether T.
Stieber C, et al. Among authors: windheuser ic.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017 May;60(5):517-522. doi: 10.1007/s00103-017-2535-8.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017.
PMID: 28289775
German.
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Use of ultrasound for vascular access during cardiac catheterisation in children with congenital heart disease: a Swiss multicentre cohort study.
Salihu A, Windheuser IC, Wacker J, Gloekler M, Di Bernardo S.
Salihu A, et al. Among authors: windheuser ic.
Swiss Med Wkly. 2024 Sep 4;154:3575. doi: 10.57187/s.3575.
Swiss Med Wkly. 2024.
PMID: 39462476
Free article.
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