Human Genetic Diseases

Dijana Plaseska-Karanfilska

doi:10.5772/904

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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

Books open for chapter submissions

49331 Total Chapter Downloads

9 Crossref Citations

34 Web of Science Citations

36 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		2152
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		2876
Open access peer-reviewed 3. Osteoclast Genetic Diseases By Andrea Del Fattore and Anna Teti		2256
Open access peer-reviewed 4. MRE11A Gene Mutations Responsible for the Rare Ataxia Telangiectasia-Like Disorder By Ghazi Alsbeih		2884
Open access peer-reviewed 5. Neuronopathic Forms in Subjects with Mutations in GBA Gene By Pilar Giraldo, Jose-Luis Capablo and Miguel Pocovi		1908
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		2858
Open access peer-reviewed 7. CCL Chemokines Levels in Tear Fluid of Patients with Cystic Fibrosis By Malgorzata Mrugacz		1555
Open access peer-reviewed 8. The Genetic Makeup of Azoreans Versus Mainland Portugal Population By Cláudia Castelo Branco and Luisa Mota-Vieira		14865
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		1590
Open access peer-reviewed 10. Preimplantation HLA Typing By Semra Kahraman and Cagri Beyazyurek		2877
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		2131
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		2417
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		1361
Open access peer-reviewed 14. Nanomedicine and Drug Delivery Strategies for Treatment of Genetic Diseases By Janet Hsu and Silvia Muro		2500
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		2778
Open access peer-reviewed 16. Genethical Aspects of Research and Medical Services in Islamic Countries By Mohsen A.F. El-Hazmi		2323

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