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Submicroscopic structural variation and genomic disorders

Julian C. Knight

in Human Genetic Diversity: Functional Consequences for Health and Disease

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199227693
eISBN:
9780191711015
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199227693.003.0005
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

In this chapter the basis and nature of genomic disorders are described with examples including DiGeorge Syndrome, Williams-Beuren syndrome, Charcot Marie Tooth disease, Prader-Willi, and Angelman ... More


Human Genetic Diversity: Functional Consequences for Health and Disease

Julian C. Knight

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199227693
eISBN:
9780191711015
Item type:
book
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199227693.001.0001
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

This book describes the remarkable progress which has been made in defining the extent and nature of human genetic variation, and its many consequences for us as individuals and in understanding ... More


Cytogenetics and large scale structural genomic variation

Julian C. Knight

in Human Genetic Diversity: Functional Consequences for Health and Disease

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199227693
eISBN:
9780191711015
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199227693.003.0003
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

Cytogenetics has played a fundamental role in advancing our understanding of human genetic variation. Advances in this field are set in a historical context, describing the microscopically visible ... More


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