Introduction.- Formation of UPD.- UPD in diagnostics and genetic counseling.- UPD related syndromes caused by imprinting.- Maternal UPD by chromosome.- Paternal UPD by chromosome.- UPD of unclear parental origin by chromosome.- UPD of multiple chromosomes or chromosomal regions.- Acquired UPD.- Patient organizations in connection with UPD-. Glossary-. References.- Index.
Les informations fournies dans la section « Synopsis » peuvent faire référence à une autre édition de ce titre.
Vendeur : Universitätsbuchhandlung Herta Hold GmbH, Berlin, Allemagne
xviii, 192 p. Hardcover. Versand aus Deutschland / We dispatch from Germany via Air Mail. Einband bestoßen, daher Mängelexemplar gestempelt, sonst sehr guter Zustand. Imperfect copy due to slightly bumped cover, apart from this in very good condition. Stamped. Sprache: Englisch. N° de réf. du vendeur 4399BB
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Vendeur : BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, Allemagne
Buch. Etat : Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed.Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims. 212 pp. Englisch. N° de réf. du vendeur 9783642552878
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Vendeur : moluna, Greven, Allemagne
Gebunden. Etat : New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. First book on this topic The author is a leading expert in the field and his laboratory is collecting all published casesWritten in collaboration with a family support groupWith numerous patient reportsThis book focus o. N° de réf. du vendeur 5064354
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Vendeur : Books Puddle, New York, NY, Etats-Unis
Etat : New. pp. 212 Index. N° de réf. du vendeur 26142279786
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Buch. Etat : Neu. This item is printed on demand - Print on Demand Titel. Neuware -This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed.Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.Springer-Verlag KG, Sachsenplatz 4-6, 1201 Wien 212 pp. Englisch. N° de réf. du vendeur 9783642552878
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Buch. Etat : Neu. Druck auf Anfrage Neuware - Printed after ordering - This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed.Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims. N° de réf. du vendeur 9783642552878
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