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Next-generation sequencing in X-linked intellectual disability.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P. Tzschach A, et al. Among authors: bauer p, bauer c. Eur J Hum Genet. 2015 Nov;23(11):1513-8. doi: 10.1038/ejhg.2015.5. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649377 Free PMC article.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Frints SGM, et al. Among authors: bauer p, bauer c. Mol Psychiatry. 2019 Nov;24(11):1748-1768. doi: 10.1038/s41380-018-0065-x. Epub 2018 May 4. Mol Psychiatry. 2019. PMID: 29728705 Free article.
A progressive dopaminergic phenotype associated with neurotoxic conversion of α-synuclein in BAC-transgenic rats.
Nuber S, Harmuth F, Kohl Z, Adame A, Trejo M, Schönig K, Zimmermann F, Bauer C, Casadei N, Giel C, Calaminus C, Pichler BJ, Jensen PH, Müller CP, Amato D, Kornhuber J, Teismann P, Yamakado H, Takahashi R, Winkler J, Masliah E, Riess O. Nuber S, et al. Among authors: bauer c. Brain. 2013 Feb;136(Pt 2):412-32. doi: 10.1093/brain/aws358. Brain. 2013. PMID: 23413261 Free PMC article.
2,476 results