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Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Muffels IJJ, Schene IF, Rehmann H, Massink MPG, van der Wal MM, Bauder C, Labeur M, Armando NG, Lequin MH, Houben ML, Giltay JC, Haitjema S, Huisman A, Vansenne F, Bluvstein J, Pappas J, Shailee LV, Zarate YA, Mokry M, van Haaften GW, Nieuwenhuis EES, Refojo D, van Wijk F, Fuchs SA, van Hasselt PM. Muffels IJJ, et al. Among authors: houben ml. Am J Hum Genet. 2023 Jan 5;110(1):146-160. doi: 10.1016/j.ajhg.2022.12.003. Am J Hum Genet. 2023. PMID: 36608681 Free PMC article.
22q11.2 Deletion Syndrome as a Human Model for Idiopathic Scoliosis.
de Reuver S, Homans JF, Schlösser TPC, Houben ML, Deeney VFX, Crowley TB, Stücker R, Pasha S, Kruyt MC, McDonald-McGinn DM, Castelein RM. de Reuver S, et al. Among authors: houben ml. J Clin Med. 2021 Oct 20;10(21):4823. doi: 10.3390/jcm10214823. J Clin Med. 2021. PMID: 34768342 Free PMC article.
Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.
von Scheibler ENMM, van der Valk Bouman ES, Nuijts MA, Bauer NJC, Berendschot TTJM, Vermeltfoort P, Bok LA, van Eeghen AM, Houben ML, van Amelsvoort TAMJ, Boot E, van Egmond-Ebbeling MB. von Scheibler ENMM, et al. Among authors: houben ml. Am J Med Genet A. 2022 Feb;188(2):569-578. doi: 10.1002/ajmg.a.62556. Epub 2021 Nov 12. Am J Med Genet A. 2022. PMID: 34773366 Free PMC article.
39 results