Human Genetic Diseases

Dijana Plaseska-Karanfilska

doi:10.5772/904

Home > Books > Clinical Genetics

Open access peer-reviewed Edited Volume

Human Genetic Diseases

Edited by Dijana Plaseska-Karanfilska

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.

Read more >Order hardcopy

Human Genetic DiseasesEdited by Dijana Plaseska-Karanfilska

Published: October 3rd 2011

DOI: 10.5772/904

ISBN: 978-953-307-936-3

Books open for chapter submissions

46033 Total Chapter Downloads

5 Crossref Citations

24 Web of Science Citations

31 Dimensions Citations

chapters		Downloads
Open access peer-reviewed 1. Signalling Pathways in Development and Human Disease: A Drosophila Wing Perspective By Cristina Molnar, Martín Resnik-Docampo, María F. Organista, Mercedes Martín, Covadonga F. Hevia and Jose F. de Celis		1852
Open access peer-reviewed 2. The FGF Family in Humans, Mice, and Zebrafish: Development, Physiology, and Pathophysiology By Sayaka Sasaki, Hiroya Ohta, Yoshiaki Nakajima, Morichika Konishi, Ayumi Miyake and Nobuyuki Itoh		2694
Open access peer-reviewed 3. Osteoclast Genetic Diseases By Andrea Del Fattore and Anna Teti		2075
Open access peer-reviewed 4. MRE11A Gene Mutations Responsible for the Rare Ataxia Telangiectasia-Like Disorder By Ghazi Alsbeih		2681
Open access peer-reviewed 5. Neuronopathic Forms in Subjects with Mutations in GBA Gene By Pilar Giraldo, Jose-Luis Capablo and Miguel Pocovi		1690
Open access peer-reviewed 6. The Role of Gene Mutations Detection in Defining the Spectrum of ß – Thalassemia in Various Ethnic Regions By Fakher Rahim, Najmaldin Saki and Mohammad Ali Jalalai far		2698
Open access peer-reviewed 7. CCL Chemokines Levels in Tear Fluid of Patients with Cystic Fibrosis By Malgorzata Mrugacz		1397
Open access peer-reviewed 8. The Genetic Makeup of Azoreans Versus Mainland Portugal Population By Cláudia Castelo Branco and Luisa Mota-Vieira		14499
Open access peer-reviewed 9. Double-Factor Preimplantation Genetic Diagnosis: Preliminary Results By Obradors A, Rius M, Daina G, Cuzzi JF, Martínez-Pasarell O, Fernández E, López O, Polo A, Séculi JL, Gartner S, Oliver-Bonet M, Benet J and Navarro J		1451
Open access peer-reviewed 10. Preimplantation HLA Typing By Semra Kahraman and Cagri Beyazyurek		2690
Open access peer-reviewed 11. The Contribution of Molecular Techniques in Prenatal Diagnosis and Post mortem Fetus with Multiple Malformation By Rejane Gus Kessler, Sandra Leistner-Segal, Maria Teresa Sanseverino, Jose Antonio de Azevedo Magalhaes, Mariluce Riegel and Roberto Giugliani		1936
Open access peer-reviewed 12. Detection of the Most Common Genetic Causes of Male Infertility by Quantitative Fluorescent (QF)-PCR Analysis By Dijana Plaseska-Karanfilska, Predrag Noveski and Toso Plaseski		2218
Open access peer-reviewed 13. High-Throughput Screening for Highly Functional RNA-Trans-Splicing Molecules: Correction of Plectin in Epidermolysis Bullosa Simplex By Verena Wally, Ulrich Koller and Johann W. Bauer		1136
Open access peer-reviewed 14. Nanomedicine and Drug Delivery Strategies for Treatment of Genetic Diseases By Janet Hsu and Silvia Muro		2325
Open access peer-reviewed 15. Consanguinity and Its Effect on Morbidity and Congenital Disorders Among Arabs in Israel By Sharkia Rajech, Athamny Esmael, Khatib Mohamad, Sheikh-Muhammad Ahmad, Azem Abdussalam and Mahajnah Muhammad		2594
Open access peer-reviewed 16. Genethical Aspects of Research and Medical Services in Islamic Countries By Mohsen A.F. El-Hazmi		2097

Edited Volume and chapters are indexed in

Order a hardcopy of the Edited Volume

Human Genetic DiseasesEdited by Dijana Plaseska-Karanfilska

Free shipping with DHL Express

Hardcover (ex. VAT)£140

Order now

Residents of European Union countries need to add a Book Value-Added Tax of 5%. Institutions and companies, registered as VAT taxable entities in their own EU member state, will not pay VAT by providing IntechOpen with their VAT registration number. This is made possible by the EU reverse charge method.

Special discount for IntechOpen contributors

All IntechOpen contributors are offered special discounts starting at 40% OFF available through your personal dashboard

Gene Regulation

Edited by Payam Behzadi

Frontiers in Guided Wave Optics and OptoelectronicsEdited by Bishnu Pal

Human Genetic Diseases

Edited Volume and chapters are indexed in

Order a hardcopy of the Edited Volume

Special discount for IntechOpen contributors

Related books

Advances in the Study of Genetic Disorders

Genetics and Etiology of Down Syndrome

Down Syndrome

Prenatal Diagnosis and Screening for Down Syndrome

Health Problems in Down Syndrome

Advances in Research on Down Syndrome

Gene Regulation

Frontiers in Guided Wave Optics and Optoelectronics

Ionic Liquids

Infrared Spectroscopy