Chromosome Abnormalities and Genetic Counseling Oxford Monographs on Medical Genetics 9780195106152 Medicine Health Science Books Lecteur PDF gratuit QJR

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There have been many advances in clinical cytogenetics since the first edition of this book appeared in 1989. The authors have written more expansively on segregation and risks in reciprocal translocations, X-autosome translocations, inversions, insertions, and prenatal diagnosis. The deletion syndromes have become more numerous, and more precisely defined, and this required treatment. Fluorescence in situ hybridization has become a routinely applied methodology, and its use has extended the power, and increased the sophistication, of the discipline of clinical cytogenetics. The Human Genome Project is unravelling the complexity of our genetic inheritance, and readers will find evidence of its impact on the practicalities of human cytogenetics throughout the book. Two phrases not used at all in the first edition are dynamic mutation and genomic imprinting. The fragile X syndrome now has the status of the prototypical dynamic mutation. The authors completely rewrote this chapter, giving it a much more molecular character. The Prader-Willi and Angelman syndromes, likewise, have become the classic examples of genomic imprinting and uniparental disomy. Compared with the tentative comments on these syndromes in the first edition, they now receive more extensive treatment. Yet, while the subject has become more complicated, the book's aim remains the same; to furnish a straightforward scientific description that will help readers understand the various chromosome abnormalities encountered in clinical practice, and to provide practical advice that can be passed on to the people who have, or whose families have, these abnormalities.
R. J. M. Gardner, G. R. Sutherland,Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics),Oxford University Press,0195106156,Internal Medicine,Congenital diseases disorders,Counseling of,Diseases - General,Genetic counseling,Genetics,Health/Fitness,Human chromosome abnormalities,MEDICAL / Genetics,Medical,Medical / Nursing,Medical Genetics,Patients,Reference

Chromosome Abnormalities and Genetic Counseling Oxford Monographs on Medical Genetics 9780195106152 Medicine Health Science Books Reviews :

There have been many advances in clinical cytogenetics since the first edition of this book appeared in 1989. The authors have written more expansively on segregation and risks in reciprocal translocations, X-autosome translocations, inversions, insertions, and prenatal diagnosis. The deletion syndromes have become more numerous, and more precisely defined, and this required treatment. Fluorescence in situ hybridization has become a routinely applied methodology, and its use has extended the power, and increased the sophistication, of the discipline of clinical cytogenetics. The Human Genome Project is unravelling the complexity of our genetic inheritance, and readers will find evidence of its impact on the practicalities of human cytogenetics throughout the book. Two phrases not used at all in the first edition are dynamic mutation and genomic imprinting. The fragile X syndrome now has the status of the prototypical dynamic mutation. The authors completely rewrote this chapter, giving it a much more molecular character. The Prader-Willi and Angelman syndromes, likewise, have become the classic examples of genomic imprinting and uniparental disomy. Compared with the tentative comments on these syndromes in the first edition, they now receive more extensive treatment. Yet, while the subject has become more complicated, the book's aim remains the same; to furnish a straightforward scientific description that will help readers understand the various chromosome abnormalities encountered in clinical practice, and to provide practical advice that can be passed on to the people who have, or whose families have, these abnormalities.

R. J. M. Gardner, G. R. Sutherland,Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics),Oxford University Press,0195106156,Internal Medicine,Congenital diseases disorders,Counseling of,Diseases - General,Genetic counseling,Genetics,Health/Fitness,Human chromosome abnormalities,MEDICAL / Genetics,Medical,Medical / Nursing,Medical Genetics,Patients,Reference

Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics) 9780195106152 Medicine Health Science Books @

 

Product details Series Oxford Monographs on Medical Genetics (Book 29) Hardcover 496 pages Publisher Oxford University Press; 2 edition (July 11, 1996) Language English ISBN-10 0195106156

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