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| Artikel-Nr.: 5667A-9783758451935 Herst.-Nr.: 9783758451935 EAN/GTIN: 9783758451935 |
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| This book is essential information for those affected, their families, and doctors who are confronted with the diagnosis, that they are dealing with a small supernumerary marker chromosome (= sSMC). This book clarifies basic questions on the subject such as: - What are sSMCs and how are they structured? - What genetic parts do they consist of? - What is known about the nature of sSMC formation? - How is an sSMC diagnosed? - What clinical problems do they cause? - How are they categorized? - What are the effects of cell mosaics? - What are familial or de novo sSMCs? - Why does uniparental disomy play a role in some sSMCs? - What research approaches to sSMCs are there? - Which patient organizations / support groups exist? This book is based on research by the author, published since 2005 on the website: sSMC/0-Start.html Weitere Informationen: | | Author: | Dr. Thomas Liehr | Verlag: | epubli | Sprache: | eng |
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| Weitere Suchbegriffe: small supernumerary marker chromosomes, Clinical Genetics, Cytogenetics, Molecular Genetics, Genotype-Phenotype-correlation, sSMC-formation, diagnostics |
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