Molecular Diagnosis of Genetic Diseases

This book intends to share and exchange the advancing knowledge and experiences from the authors, who have the necessary expertise within the various topics and subjects in the research, diagnosis, and management of rare diseases. Author is hoped they are able to provide further benefits to patients and families with the development of early and accurate diagnosis and effective therapies.

This volume is a vital reference for anyone working in the field of animal health and welfare, including veterinarians, researchers, and students. This comprehensive book offers insights into the molecular and biochemical mechanisms underlying various cattle diseases and provides practical guidance for improving animal health and productivity.

Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes.

Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies.