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02843nam a22005055i 4500 |
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20151204145909.0 |
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|a 9783642552885
|9 978-3-642-55288-5
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|a 10.1007/978-3-642-55288-5
|2 doi
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|a RB155-155.8
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|a 611.01816
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|a 599.935
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|a Liehr, Thomas.
|e author.
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|a Uniparental Disomy (UPD) in Clinical Genetics
|h [electronic resource] :
|b A Guide for Clinicians and Patients /
|c by Thomas Liehr.
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|a Berlin, Heidelberg :
|b Springer Berlin Heidelberg :
|b Imprint: Springer,
|c 2014.
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|a XVIII, 192 p. 36 illus., 26 illus. in color.
|b online resource.
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|a text
|b txt
|2 rdacontent
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|a computer
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|a online resource
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|a text file
|b PDF
|2 rda
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|a 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.
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|a 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.
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|a Medicine.
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| 650 |
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|a Human genetics.
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| 650 |
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|a Cytogenetics.
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| 650 |
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|a Laboratory medicine.
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| 650 |
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|a Reproductive medicine.
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| 650 |
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|a Biomedicine.
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| 650 |
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|a Human Genetics.
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| 650 |
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|a Cytogenetics.
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| 650 |
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|a Reproductive Medicine.
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| 650 |
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|a Laboratory Medicine.
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| 710 |
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|a SpringerLink (Online service)
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|t Springer eBooks
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|i Printed edition:
|z 9783642552878
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|u http://dx.doi.org/10.1007/978-3-642-55288-5
|z Full Text via HEAL-Link
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| 912 |
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|a ZDB-2-SBL
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| 950 |
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|a Biomedical and Life Sciences (Springer-11642)
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