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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.
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome).
Boschann F, Moreno DA, Mensah MA, Sczakiel HL, Skipalova K, Holtgrewe M, Mundlos S, Fischer-Zirnsak B.
Boschann F, et al. Among authors: skipalova k.
J Hum Genet. 2022 Jul;67(7):405-410. doi: 10.1038/s10038-022-01018-z. Epub 2022 Jan 31.
J Hum Genet. 2022.
PMID: 35095096
Free PMC article.
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High frequency of dicentric chromosomes detected by multi-centromeric FISH in patients with acute myeloid leukemia and complex karyotype.
Sarova I, Brezinova J, Zemanova Z, Ransdorfova S, Svobodova K, Izakova S, Pavlistova L, Lizcova L, Berkova A, Skipalova K, Hodanova L, Salek C, Jonasova A, Michalova K.
Sarova I, et al. Among authors: skipalova k.
Leuk Res. 2018 May;68:85-89. doi: 10.1016/j.leukres.2018.03.009. Epub 2018 Mar 19.
Leuk Res. 2018.
PMID: 29574397
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