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Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.
Schönauer R, Jin W, Ertel A, Nemitz-Kliemchen M, Panitz N, Hantmann E, Seidel A, Braun DA, Shril S, Hansen M, Shahzad K, Sandford R, Saunier S, Benmerah A, Bergmann C, Hildebrandt F, Halbritter J. Schönauer R, et al. Among authors: seidel a. Kidney Int. 2020 Oct;98(4):958-969. doi: 10.1016/j.kint.2020.05.027. Epub 2020 Jun 4. Kidney Int. 2020. PMID: 32505465 Free PMC article.
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.
Schönauer R, Scherer L, Nemitz-Kliemchen M, Hagemann T, Hantmann E, Seidel A, Müller L, Kehr S, Voigt C, Stolzenburg JU, Halbritter J. Schönauer R, et al. Among authors: seidel a. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):279-288. doi: 10.1002/ajmg.c.31991. Epub 2022 Aug 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35923129
Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly.
Schleinitz D, Seidel A, Stassart R, Klammt J, Hirrlinger PG, Winkler U, Köhler S, Heiker JT, Schönauer R, Bialek J, Krohn K, Hoffmann K, Kovacs P, Hirrlinger J. Schleinitz D, et al. Among authors: seidel a. Front Genet. 2018 Jul 13;9:245. doi: 10.3389/fgene.2018.00245. eCollection 2018. Front Genet. 2018. PMID: 30057589 Free PMC article.
[Foot and ankle pathologies during pregnancy].
Naim Rodriguez N, Soares S, Seidel A. Naim Rodriguez N, et al. Among authors: seidel a. Rev Med Suisse. 2024 Mar 20;20(866):607-610. doi: 10.53738/REVMED.2024.20.866.607. Rev Med Suisse. 2024. PMID: 38506464 French.
496 results