THOMPSON & THOMPSON GENETICS IN MEDICINE /
Nussbaum, Robert L.
THOMPSON & THOMPSON GENETICS IN MEDICINE / Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard ; With Clinical Case Studies updated by: Ada Hamosh - EIGHT EDITION - - xi, 546 pages ; graphics, illustrations, photos ; 27.5 cm.
12 copies
Introduction to the human genome -- The human genome: gene structure and function -- Human genetic diversity: mutation and polymorphism -- Principles of clinical cytogenetics and genome analysis -- The chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes -- Patterns of single-gene inheritance -- Complex inheritance of common multifactorial disorders -- Genetic variation in populations -- Identifying the genetic basis for human disease -- The molecular basis of genetic disease : general principles and lessons from the hemoglobinopathies -- The molecular, biochemical, and cellular basis of genetic disease -- The treatment of genetic disease -- Developmental genetics and birth defects -- Cancer genetics and genomics -- Risk assessment and genetic counseling -- Prenatal diagnosis and screening -- Application of genomics to medicine and personalized health care -- Ethical and social issues in genetics and genomics. Introduction 1 Introduction to the Human Genome 3 The Human Genome Gene Structure and Function 21 Human Genetic Diversity Mutation and Polymorphism 43 Principles of Clinical Cytogenetics and Genome Analysis 57 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosome and Sex Chromosome 75 Patterns of Single-Gene Inheritance 107 Complex Inheritance of Common Multifactorial Disorders 133 Genetic Variation in Populations 155 Identifying the Genetic Basis for Human Disease 171 The Molecular Basis of Genetic Disease 195 The Molecular Biochemical and Cellular Basis of Genetic Disease 215 The Treatment of Genetic Disease 257 Developmental Genetics and Both Defects (With the assistance of Anthony Wynshaw-Boris MD.PhD 283 Cancer Genetics and Genomics 309 Risk Assessment and Genetic Counseling 333 Prenatal Diagnosis and Screening 349 Application of Genomics to Medicine and Personalized Health Care 369 Ethical and Social Issues in Genetics and Genomics 383 Index 533
9781437706963
Medical genetics.
616.042 / N87 2016
THOMPSON & THOMPSON GENETICS IN MEDICINE / Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard ; With Clinical Case Studies updated by: Ada Hamosh - EIGHT EDITION - - xi, 546 pages ; graphics, illustrations, photos ; 27.5 cm.
12 copies
Introduction to the human genome -- The human genome: gene structure and function -- Human genetic diversity: mutation and polymorphism -- Principles of clinical cytogenetics and genome analysis -- The chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes -- Patterns of single-gene inheritance -- Complex inheritance of common multifactorial disorders -- Genetic variation in populations -- Identifying the genetic basis for human disease -- The molecular basis of genetic disease : general principles and lessons from the hemoglobinopathies -- The molecular, biochemical, and cellular basis of genetic disease -- The treatment of genetic disease -- Developmental genetics and birth defects -- Cancer genetics and genomics -- Risk assessment and genetic counseling -- Prenatal diagnosis and screening -- Application of genomics to medicine and personalized health care -- Ethical and social issues in genetics and genomics. Introduction 1 Introduction to the Human Genome 3 The Human Genome Gene Structure and Function 21 Human Genetic Diversity Mutation and Polymorphism 43 Principles of Clinical Cytogenetics and Genome Analysis 57 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosome and Sex Chromosome 75 Patterns of Single-Gene Inheritance 107 Complex Inheritance of Common Multifactorial Disorders 133 Genetic Variation in Populations 155 Identifying the Genetic Basis for Human Disease 171 The Molecular Basis of Genetic Disease 195 The Molecular Biochemical and Cellular Basis of Genetic Disease 215 The Treatment of Genetic Disease 257 Developmental Genetics and Both Defects (With the assistance of Anthony Wynshaw-Boris MD.PhD 283 Cancer Genetics and Genomics 309 Risk Assessment and Genetic Counseling 333 Prenatal Diagnosis and Screening 349 Application of Genomics to Medicine and Personalized Health Care 369 Ethical and Social Issues in Genetics and Genomics 383 Index 533
9781437706963
Medical genetics.
616.042 / N87 2016