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Unsuccessful intravenous D-mannose treatment in PMM2-CDG.
Grünert SC, Marquardt T, Lausch E, Fuchs H, Thiel C, Sutter M, Schumann A, Hannibal L, Spiekerkoetter U. Grünert SC, et al. Among authors: lausch e. Orphanet J Rare Dis. 2019 Oct 22;14(1):231. doi: 10.1186/s13023-019-1213-3. Orphanet J Rare Dis. 2019. PMID: 31640729 Free PMC article.
Screening for hypophosphatasia: does biochemistry lead the way?
Held CM, Guebelin A, Krebs A, Sass JO, Wurm M, Lausch E, van der Werf-Grohmann N, Schwab KO. Held CM, et al. Among authors: lausch e. J Pediatr Endocrinol Metab. 2021 Sep 22;35(2):169-178. doi: 10.1515/jpem-2021-0104. Print 2022 Feb 23. J Pediatr Endocrinol Metab. 2021. PMID: 34551461
Against all odds: blended phenotypes of three single-gene defects.
Li Y, Salfelder A, Schwab KO, Grünert SC, Velten T, Lütjohann D, Villavicencio-Lorini P, Matysiak-Scholze U, Zabel B, Köttgen A, Lausch E. Li Y, et al. Among authors: lausch e. Eur J Hum Genet. 2016 Aug;24(9):1274-9. doi: 10.1038/ejhg.2015.285. Epub 2016 Jan 27. Eur J Hum Genet. 2016. PMID: 26813946 Free PMC article.
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A; UK10K Consortium; Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS. Shaheen R, et al. Among authors: lausch e. Hum Mol Genet. 2015 Mar 1;24(5):1410-9. doi: 10.1093/hmg/ddu555. Epub 2014 Oct 30. Hum Mol Genet. 2015. PMID: 25361962 Free PMC article.
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E. Wehrle A, et al. Among authors: lausch e. JCI Insight. 2019 Feb 7;4(3):e124701. doi: 10.1172/jci.insight.124701. JCI Insight. 2019. PMID: 30728324 Free PMC article.
Trastuzumab therapy vs tetracycline controlled ERBB2 downregulation: influence on tumour development in an ERBB2-dependent mouse tumour model.
Hermes M, Schormann W, Brulport M, Uhlemann K, Lupatsch F, Horn LC, Schumann A, Allgaier C, Weishaupt M, Engeland K, Müller GA, Mössner J, Bauer A, Schiffer IB, Gebhard S, Schmidt M, Lausch E, Prawitt D, Wilhelm C, Hengstler JG. Hermes M, et al. Among authors: lausch e. Br J Cancer. 2008 May 6;98(9):1525-32. doi: 10.1038/sj.bjc.6604318. Epub 2008 Apr 29. Br J Cancer. 2008. PMID: 18454161 Free PMC article.
74 results