Open access peer-reviewed Edited Volume

Genetic Disorders

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49,037 Chapter Downloads

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Academic Editor

Maria Puiu
Maria Puiu

Victor Babeș University of Medicine and Pharmacy Timișoara

Published09 January 2013

Doi10.5772/46039

ISBN978-953-51-0886-3

eBook (PDF) ISBN978-953-51-7061-7

Copyright year2013

Number of pages354

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Edited Volume and chapters are indexed in

  • Google Scholar
  • DOAB
  • Crossref
  • Dimension
  • OpenAIRE
  • AZ ebsco
  • Worldcat
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Table of Contents

Open access  chapters

2. Laminopathies

By Tomás McKenna, Jean-Ha Baek and Maria Eriksson

3,463
2
3. Hutchinson-Gilford Progeria Syndrome

By Jean-Ha Baek, Tomás McKenna and Maria Eriksson

5,363
2
4. Genetic Determinants of Heart Rate Variation and Cardiovascular Diseases

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

2,739
1
5. Structural Insights Into Disease Mutations of the Ryanodine Receptor

By Zhiguang Yuchi, Lynn Kimlicka and Filip Van Petegem

4,294
2
6. The Genetics of Mental Retardation

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

4,255
1
7. Molecular Bases of Ataxia Telangiectasia: One Kinase Multiple Functions

By Venturina Stagni, Simonetta Santini and Daniela Barila

2,643
1
8. Epilepsy and Genetics

By Roya Vakili and Babak Kateby Kashy

2,688
9. Rett Syndrome: A Model of Genetic Neurodevelopmental Disorders

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

3,046
10. Genetic Diseases Associated with Protein Glycosylation Disorders in Mammals

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

4,718
2
11. Genetics and Obesity

By Maria Puiu, Adela Chirita Emandi and Smaranda Arghirescu

4,661
14. Cystic Fibrosis: Does CFTR Malfunction Alter pH Regulation?

By Douglas B. Luckie and Mauri E. Krouse

2,738

IMPACT OF THIS BOOK AND ITS CHAPTERS

49,037 Total Chapter Downloads

9,435 Total Chapter Views

13 Crossref Citations

27 Web of Science Citations

38 Dimensions Citations

4 Altmetric Score

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