Search Results - "Stolfa, Miroslav"
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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
Published in Molecular cytogenetics (09-05-2018)“…With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or…”
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A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
Published in American journal of medical genetics. Part A (01-03-2023)“…Chromosomal band 17q12 is a gene‐rich region flanked by segmental duplications, making the region prone to deletions and duplications via the non‐allelic…”
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Schädel und Kerzenhalter [Ilustrace]
Published in Brünner Beiträge zur Germanistik und Nordistik (01-09-2022)Get full text
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Die Netze [Ilustrace]
Published in Brünner Beiträge zur Germanistik und Nordistik (01-09-2022)Get full text
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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
Published in Molecular cytogenetics (01-01-2018)“…BACKGROUNDWith only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs)…”
Get full text
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