Open access peer-reviewed Edited Volume

Genetic Disorders

Edited by Maria Puiu

Victor Babeș University of Medicine and Pharmacy Timișoara

Human genetics is the medical field with the most rapid progress. This book aims to provide an overview on some of the latest developments in several genetic diseases. It contains 14 chapters focused on various genetic disorders addressing epidemiology, etiology, molecular basis and novel treatment options for these diseases. The chapters were written by 41 collaborators, from 8 different countries in Europe, Asia, and America, with great expertise in their field. Chapters are heterogeneous, offering a welcomed personalized view on each particular subject. The book does not offer a systematic overview of human genetic disorders. However, they are a valuable resource for medical practitioners, researchers, biologists and students in various medical sciences.

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Genetic DisordersEdited by Maria Puiu

Published: January 9th 2013

DOI: 10.5772/46039

ISBN: 978-953-51-0886-3

eBook (PDF) ISBN: 978-953-51-7061-7

Copyright year: 2013

Books open for chapter submissions

40661 Total Chapter Downloads

9 Crossref Citations

28 Web of Science Citations

28 Dimensions Citations


Open access peer-reviewed

1. A Therapeutic Role for Hematopoietic Stem Cells in Osteogenesis Imperfecta

By Meenal Mehrotra and Amanda C. LaRue


Open access peer-reviewed

2. Laminopathies

By Tomás McKenna, Jean-Ha Baek and Maria Eriksson


Open access peer-reviewed

3. Hutchinson-Gilford Progeria Syndrome

By Jean-Ha Baek, Tomás McKenna and Maria Eriksson


Open access peer-reviewed

4. Genetic Determinants of Heart Rate Variation and Cardiovascular Diseases

By Vyacheslav A. Korshunov, Igor A. Dyachenko and Arkady N. Murashev


Open access peer-reviewed

5. Structural Insights Into Disease Mutations of the Ryanodine Receptor

By Zhiguang Yuchi, Lynn Kimlicka and Filip Van Petegem


Open access peer-reviewed

6. The Genetics of Mental Retardation

By Maria Puiu, Simona Dumitriu, Adela Chiriță-Emandi, Raluca Grădinaru and Smaranda Arghirescu


Open access peer-reviewed

7. Molecular Bases of Ataxia Telangiectasia: One Kinase Multiple Functions

By Venturina Stagni, Simonetta Santini and Daniela Barila


Open access peer-reviewed

8. Epilepsy and Genetics

By Roya Vakili and Babak Kateby Kashy


Open access peer-reviewed

9. Rett Syndrome: A Model of Genetic Neurodevelopmental Disorders

By Christopher A. Chapleau, Jane Lane, Lucas Pozzo-Miller and Alan K. Percy


Open access peer-reviewed

10. Genetic Diseases Associated with Protein Glycosylation Disorders in Mammals

By Yoshiaki Nakayama, Naosuke Nakamura, Daisuke Tsuji, Koji Itoh and Akira Kurosaka


Open access peer-reviewed

11. Genetics and Obesity

By Maria Puiu, Adela Chirita Emandi and Smaranda Arghirescu


Open access peer-reviewed

12. Role of the Genetic Factors in the Development of Myopia

By Malgorzata Mrugacz


Open access peer-reviewed

13. Bone Marrow Microenvironment defects in Fanconi AnemiaBone Marrow Microenvironment Defects in Fanconi Anemia

By Wen Xing, Mingjiang Xu and Feng-Chun Yang


Open access peer-reviewed

14. Cystic Fibrosis: Does CFTR Malfunction Alter pH Regulation?

By Douglas B. Luckie and Mauri E. Krouse


Edited Volume and chapters are indexed in

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

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