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Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M. Meyer R, et al. Among authors: kurth i. Bone. 2019 Oct;127:446-451. doi: 10.1016/j.bone.2019.07.016. Epub 2019 Jul 17. Bone. 2019. PMID: 31325655
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.
Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Häusler M. Elbracht M, et al. Among authors: kurth i. Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26. Neuropediatrics. 2017. PMID: 28024309
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
Kirschner M, Maurer A, Wlodarski MW, Ventura Ferreira MS, Bouillon AS, Halfmeyer I, Blau W, Kreuter M, Rosewich M, Corbacioglu S, Beck J, Schwarz M, Bittenbring J, Radsak MP, Wilk CM, Koschmieder S, Begemann M, Kurth I, Schemionek M, Brümmendorf TH, Beier F. Kirschner M, et al. Among authors: kurth i. Leukemia. 2018 Aug;32(8):1762-1767. doi: 10.1038/s41375-018-0125-x. Epub 2018 Apr 2. Leukemia. 2018. PMID: 29749397 Free article.
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I. Karsai G, et al. Among authors: kurth i. J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620338 Free PMC article.
220 results