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A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation.
Am J Med Genet A. 2023 Mar;191(3):870-877. doi: 10.1002/ajmg.a.63085. Epub 2022 Dec 22.
Am J Med Genet A. 2023.
PMID: 36548033
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.
Tesner P, Drabova J, Stolfa M, Kudr M, Kyncl M, Moslerova V, Novotna D, Kremlikova Pourova R, Kocarek E, Rasplickova T, Sedlacek Z, Vlckova M.
Tesner P, et al. Among authors: stolfa m.
Mol Cytogenet. 2018 May 9;11:29. doi: 10.1186/s13039-018-0377-1. eCollection 2018.
Mol Cytogenet. 2018.
PMID: 29760779
Free PMC article.
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SARS-CoV-2, Placental Histopathology, Gravity of Infection and Immunopathology: Is There an Association?
Resta L, Vimercati A, Cazzato G, Fanelli M, Scarcella SV, Ingravallo G, Colagrande A, Sablone S, Stolfa M, Arezzo F, Lettini T, Rossi R.
Resta L, et al. Among authors: stolfa m.
Viruses. 2022 Jun 18;14(6):1330. doi: 10.3390/v14061330.
Viruses. 2022.
PMID: 35746801
Free PMC article.
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