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A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.
Front Genet. 2024 Mar 11;15:1331066. doi: 10.3389/fgene.2024.1331066. eCollection 2024.
Front Genet. 2024.
PMID: 38528911
Free PMC article.
PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.
Soloveva EV, Skleimova MM, Minaycheva LI, Garaeva AF, Zhigalina DI, Churkin EO, Okkel YV, Timofeeva OS, Petrov IA, Seitova GN, Lebedev IN, Stepanov VA.
Soloveva EV, et al. Among authors: skleimova mm.
J Assist Reprod Genet. 2024 May;41(5):1273-1283. doi: 10.1007/s10815-024-03105-w. Epub 2024 Apr 5.
J Assist Reprod Genet. 2024.
PMID: 38578603
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