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Page 1
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature. 2023 Feb;614(7948):564-571. doi: 10.1038/s41586-022-05682-1. Epub 2023 Feb 8.
Nature. 2023.
PMID: 36755093
Free PMC article.
Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.
Kunde SA, Rademacher N, Tzschach A, Wiedersberg E, Ullmann R, Kalscheuer VM, Shoichet SA.
Kunde SA, et al. Among authors: wiedersberg e.
Hum Genet. 2013 Apr;132(4):461-71. doi: 10.1007/s00439-012-1260-5. Epub 2013 Jan 18.
Hum Genet. 2013.
PMID: 23329067
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Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
Chen W, Ullmann R, Langnick C, Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A, Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, van Ravenswaaij-Arts CM, Kleefstra T, Kalscheuer VM, Ropers HH.
Chen W, et al. Among authors: wiedersberg e.
Eur J Hum Genet. 2010 May;18(5):539-43. doi: 10.1038/ejhg.2009.211. Epub 2009 Dec 2.
Eur J Hum Genet. 2010.
PMID: 19953122
Free PMC article.
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