Open access peer-reviewed Edited Volume

Human Genetic Diseases

Edited by Dijana Plaseska-Karanfilska

Macedonian Academy of Sciences and Arts, Macedonia

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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Human Genetic DiseasesEdited by Dijana Plaseska-Karanfilska

Published: October 3rd 2011

DOI: 10.5772/904

ISBN: 978-953-307-936-3

eBook (PDF) ISBN: 978-953-51-6767-9

Copyright year: 2011

Books open for chapter submissions

55893 Total Chapter Downloads

11 Crossref Citations

37 Web of Science Citations

40 Dimensions Citations


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


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


Open access peer-reviewed

3. Osteoclast Genetic Diseases

By Andrea Del Fattore and Anna Teti


Open access peer-reviewed

4. MRE11A Gene Mutations Responsible for the Rare Ataxia Telangiectasia-Like Disorder

By Ghazi Alsbeih


Open access peer-reviewed

5. Neuronopathic Forms in Subjects with Mutations in GBA Gene

By Pilar Giraldo, Jose-Luis Capablo and Miguel Pocovi


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


Open access peer-reviewed

7. CCL Chemokines Levels in Tear Fluid of Patients with Cystic Fibrosis

By Malgorzata Mrugacz


Open access peer-reviewed

8. The Genetic Makeup of Azoreans Versus Mainland Portugal Population

By Cláudia Castelo Branco and Luisa Mota-Vieira


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


Open access peer-reviewed

10. Preimplantation HLA Typing

By Semra Kahraman and Cagri Beyazyurek


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


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


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


Open access peer-reviewed

14. Nanomedicine and Drug Delivery Strategies for Treatment of Genetic Diseases

By Janet Hsu and Silvia Muro


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


Open access peer-reviewed

16. Genethical Aspects of Research and Medical Services in Islamic Countries

By Mohsen A.F. El-Hazmi


Edited Volume and chapters are indexed in

  • Worldcat
  • OpenAIRE
  • Google Scholar
  • AZ ebsco
  • Base
  • CNKI

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