Isbn: 9783642552878 - uniparental disomy (upd) in clinical genetics: a guide for clinicians and patients (13 resultados)

Condición: New. In English.

Condición: New.

Buch. Condición: 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.…

Condición: New. pp. 212 Index.

Hardcover. Condición: Brand New. 200 pages. 9.50x6.50x0.75 inches. In Stock.

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Condición: new. Questo è un articolo print on demand.

Condición: 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.…

Buch. Condición: 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.…

Buch. Condición: 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.…

Condición: New. Print on Demand pp. 212 62 Illus. (26 Col.).

Condición: New. PRINT ON DEMAND pp. 212.