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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain. 2022 Jul 29;145(7):2602-2616. doi: 10.1093/brain/awac034.
Brain. 2022.
PMID: 35104841
Free PMC article.
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, Frengen E.
Sumathipala D, et al. Among authors: einarsen ih.
BMC Med Genet. 2020 May 7;21(1):96. doi: 10.1186/s12881-020-01024-y.
BMC Med Genet. 2020.
PMID: 32381069
Free PMC article.
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