Medical GeneticsElsevier Health Sciences, 04/09/2015 - 368 من الصفحات Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention.
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المحتوى
1 Background and History | 1 |
4 Autosomal Dominant and Recessive Inheritance | 60 |
5 SexLinked and Nontraditional Modes of Inheritance | 79 |
8 DiseaseGene Identification | 154 |
9 Immunogenetics | 180 |
10 Genetic Basis of Development | 197 |
11 Cancer Genetics | 217 |
12 Multifactorial Inheritance and Common Diseases | 239 |
13 Genetic Testing and Gene Therapy | 265 |
14 Genetics and Precision Medicine | 292 |
15 Clinical Genetics and Genetic Counseling | 301 |
Glossary | 321 |
Answers to Study Questions | 332 |
342 | |
Inside Back Cover | 359 |
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عبارات ومصطلحات مألوفة
abnormalities acid activity addition affected allele altered amino analysis approximately associated autosomal base bind blood cancer carrier carry cause cells Chapter chromosome clinical common complex condition contains copies cytoplasm defects deficiency deletion diagnosis discussed disease disease-causing disorders DNA sequence dominant encodes enzyme estimated example expression factors females frequency function gene genetic genome genotype growth human identified immune important increased individual inherited involved known lead less levels linkage located loci locus loss major males marker molecules mRNA multiple mutations neural tube normal observed occur offspring organisms pairs parents patients pattern persons phenotype population positive present probability produce protein receptor recessive recombination reduced region relatively repeats response result risk screening seen severe signal similar single somatic specific studies syndrome Table termed therapy tion tissue transcription tumor typically usually variation