TY  - BOOK
AU  - Nussbaum,Robert L.
AU  - McInnes,Roderick R.
AU  - Willard,Huntington F.
AU  - Hamosh,Ada
TI  - THOMPSON & THOMPSON GENETICS IN MEDICINE
SN  - 9781437706963
U1  - 616.042 
PY  - 2016///
CY  - Philadelphia
PB  - ELSEVIER
KW  - Medical genetics
N1  - 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; 1; Introduction; 3; Introduction to the Human Genome; 21; The Human Genome Gene Structure and Function; 43; Human Genetic Diversity Mutation and Polymorphism; 57; Principles of Clinical Cytogenetics and Genome Analysis; 75; The Chromosomal and Genomic Basis of Disease: Disorders of the Autosome and Sex Chromosome; 107; Patterns of Single-Gene Inheritance; 133; Complex Inheritance of Common Multifactorial Disorders; 155; Genetic Variation in Populations; 171; Identifying the Genetic Basis for Human Disease; 195; The Molecular Basis of Genetic Disease; 215; The Molecular Biochemical and Cellular Basis of Genetic Disease; 257; The Treatment of Genetic Disease; 283; Developmental Genetics and Both Defects (With the assistance of Anthony Wynshaw-Boris MD.PhD; 309; Cancer Genetics and Genomics; 333; Risk Assessment and Genetic Counseling; 349; Prenatal Diagnosis and Screening; 369; Application of Genomics to Medicine and Personalized Health Care; 383; Ethical and Social Issues in Genetics and Genomics; 533; Index
ER  -