http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
1 online resource : illustrations (chiefly color)
Introduction -- Molecular basis of human genetics -- Mutations and genetic variability -- Pathomechanisms of genetic diseases -- Modes of inheritance -- Twin pregnancies -- Cancer genetics -- Aging and genetics -- Pharmacogenetics -- Human genetics as a medical specialty -- Genetic counseling -- The diagnostic approach for a child with multiple anomalies or dysmorphic features -- Malformations and other morphological disturbances -- Risk estimation and calculation -- Methods for laboratory diagnostics in genetics -- Metabolic diagnostics and newborn screening -- Prenatal genetic evaluation -- Ethical concerns in medical genetics -- Multiple congenital anomalies -- Skin and connective tissue -- Cardiovascular system and hematology -- Respiratory system -- Gastrointestinal and digestive system -- Metabolic disorders -- Endocrinology and immune system -- Skeletal system -- Urinary system -- Genital system and sexual development -- Visual system -- Auditory system -- Neurological and neuromuscular disorders -- Neoplastic diseases -- Infertility and sterility -- Miscarriage and fetal demise -- Growth disturbances -- Abnorrmal head size -- Immunodeficiency syndromes -- Reports of patients and their families.
Christian Patrick Schaaf, Johannes Zschocke, Lorraine Potocki.