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Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC. Bernkopf M, et al. Among authors: enzinger c. Hum Mol Genet. 2014 Aug 1;23(15):4015-23. doi: 10.1093/hmg/ddu115. Epub 2014 Mar 13. Hum Mol Genet. 2014. PMID: 24626631 Free PMC article.
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, Enzinger C, Thiele H, Höhne W, Nürnberg G, Baig SM, Ansar M, Nürnberg P, Vincent JB, Speicher MR, Gönczy P, Windpassinger C. Khan MA, et al. Among authors: enzinger c. Hum Mol Genet. 2014 Nov 15;23(22):5940-9. doi: 10.1093/hmg/ddu318. Epub 2014 Jun 20. Hum Mol Genet. 2014. PMID: 24951542
Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.
Schmidt H, Zeginigg M, Wiltgen M, Freudenberger P, Petrovic K, Cavalieri M, Gider P, Enzinger C, Fornage M, Debette S, Rotter JI, Ikram MA, Launer LJ, Schmidt R; CHARGE consortium Neurology working group. Schmidt H, et al. Among authors: enzinger c. Brain. 2011 Nov;134(Pt 11):3384-97. doi: 10.1093/brain/awr252. Epub 2011 Oct 17. Brain. 2011. PMID: 22006983 Free PMC article.
Metabolic syndrome, brain magnetic resonance imaging, and cognition.
Cavalieri M, Ropele S, Petrovic K, Pluta-Fuerst A, Homayoon N, Enzinger C, Grazer A, Katschnig P, Schwingenschuh P, Berghold A, Schmidt R. Cavalieri M, et al. Among authors: enzinger c. Diabetes Care. 2010 Dec;33(12):2489-95. doi: 10.2337/dc10-0851. Epub 2010 Sep 17. Diabetes Care. 2010. PMID: 20852031 Free PMC article.
406 results