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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.
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.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D.
Sumathipala D, et al. Among authors: einarsen ih.
Brain. 2022 Jul 29;145(7):2602-2616. doi: 10.1093/brain/awac034.
Brain. 2022.
PMID: 35104841
Free PMC article.
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