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CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Sukumaran SK, Stumpf M, Salamon S, Ahmad I, Bhattacharya K, Fischer S, Müller R, Altmüller J, Budde B, Thiele H, Tariq M, Malik NA, Nürnberg P, Baig SM, Hussain MS, Noegel AA. Sukumaran SK, et al. Among authors: fischer s. Mol Genet Genomics. 2017 Apr;292(2):365-383. doi: 10.1007/s00438-016-1277-x. Epub 2016 Dec 21. Mol Genet Genomics. 2017. PMID: 28004182 Free PMC article.
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS. Kaygusuz E, et al. Among authors: fischer s. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34270086
Reverse switching from the biosimilar SB2 to the originator infliximab in previously switched patients with inflammatory bowel diseases: results of a prospective long-term cohort study.
Fischer S, Donhauser M, Cohnen S, Fietkau K, Vetter M, Grübel-Liehr M, Dietrich P, Rath T, Wilfer A, Sologub L, Krebs S, Dörje F, Nagore D, Meyer S, Neurath MF, Atreya R. Fischer S, et al. Therap Adv Gastroenterol. 2024 Nov 30;17:17562848241301887. doi: 10.1177/17562848241301887. eCollection 2024. Therap Adv Gastroenterol. 2024. PMID: 39619829 Free PMC article.
3,774 results