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Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother.
Longobardi E, Miceli F, Secondo A, Cicatiello R, Izzo A, Tinto N, Moutton S, Tran Mau-Them F, Vitobello A, Taglialatela M. Longobardi E, et al. Among authors: izzo a. Stem Cell Res. 2021 May;53:102311. doi: 10.1016/j.scr.2021.102311. Epub 2021 Mar 24. Stem Cell Res. 2021. PMID: 33799276 Free article.
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. Melis D, et al. Among authors: izzo a. Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671372
629 results