
- 300 pages
- English
- PDF
- Available on iOS & Android
Human Genetic Diseases
About this book
The genetics science is less than 150 years old, but its accomplishments have been astonishing. Genetics has become an indispensable component of almost all research in modern biology and medicine. Human genetic variation is associated with many, if not all, human diseases and disabilities. Nowadays, studies investigating any biological process, from the molecular level to the population level, use the "genetic approach" to gain understanding of that process. This book contains many diverse chapters, dealing with human genetic diseases, methods to diagnose them, novel approaches to treat them and molecular approaches and concepts to understand them. Although this book does not give a comprehensive overview of human genetic diseases, I believe that the sixteen book chapters will be a valuable resource for researchers and students in different life and medical sciences.
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Table of contents
- Human Genetic Diseases
- Contents
- Preface
- Chapter 1 Signalling Pathways in Development and Human Disease: A Drosophila Wing Perspective
- Chapter 2 The FGF Family in Humans, Mice, and Zebrafish: Development, Physiology, and Pathophysiology
- Chapter 3 Osteoclast Genetic Diseases
- Chapter 4 MRE11A Gene Mutations Responsible for the Rare Ataxia Telangiectasia-Like Disorder
- Chapter 5 Neuronopathic Forms in Subjects with Mutations in GBA Gene
- Chapter 6 The Role of Gene Mutations Detection in Defining the Spectrum of ß – Thalassemia in Various Ethnic Regions
- Chapter 7 CCL Chemokines Levels in Tear Fluid of Patients with Cystic Fibrosis
- Chapter 8 The Genetic Makeup of Azoreans Versus Mainland Portugal Population
- Chapter 9 Double-Factor Preimplantation Genetic Diagnosis: Preliminary Results
- Chapter 10 Preimplantation HLA Typing
- Chapter 11 The Contribution of Molecular Techniques in Prenatal Diagnosis and Post mortem Fetus with Multiple Malformation
- Chapter 12 Detection of the Most Common Genetic Causes of Male Infertility by Quantitative Fluorescent (QF)-PCR Analysis
- Chapter 13 High-Throughput Screening for Highly Functional RNA-Trans-Splicing Molecules: Correction of Plectin in Epidermolysis Bullosa Simplex
- Chapter 14 Nanomedicine and Drug Delivery Strategies for Treatment of Genetic Diseases
- Chapter 15 Consanguinity and Its Effect on Morbidity and Congenital Disorders Among Arabs in Israel
- Chapter 16 Genethical Aspects of Research and Medical Services in Islamic Countries