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Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K. Rudnik-Schöneborn S, et al. Among authors: eggermann t. Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2. Neurology. 2013. PMID: 23284067 Free PMC article.
DNA diagnosis in hereditary nephropathies.
Zerres K, Eggermann T, Rudnik-Schöneborn S. Zerres K, et al. Among authors: eggermann t. Clin Nephrol. 2001 Sep;56(3):181-92. Clin Nephrol. 2001. PMID: 11597032
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.
Poblete Gutiérrez P, Eggermann T, Höller D, Jugert FK, Beermann T, Grussendorf-Conen EI, Zerres K, Merk HF, Frank J. Poblete Gutiérrez P, et al. Among authors: eggermann t. J Invest Dermatol. 2002 Aug;119(2):527-31. doi: 10.1046/j.1523-1747.2002.01839.x. J Invest Dermatol. 2002. PMID: 12190880 Free article.
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schöneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K. Bergmann C, et al. Among authors: eggermann t. J Am Soc Nephrol. 2003 Jan;14(1):76-89. doi: 10.1097/01.asn.0000039578.55705.6e. J Am Soc Nephrol. 2003. PMID: 12506140
Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.
Schmidt C, Tomiuk J, Botzenhart E, Vester U, Halber M, Hesse A, Wagner C, Lahme S, Lang F, Zerres K, Eggermann T, Bachmann H, Bökenkamp A, Fischbach M, Fründ S, Pistor KG, Zappel HF; APN Arbeitsgemeinschaft für Pädiatrische Nephrologie. Schmidt C, et al. Among authors: eggermann t. Clin Nephrol. 2003 May;59(5):353-9. Clin Nephrol. 2003. PMID: 12779097
345 results