Open access peer-reviewed Edited Volume

Genetic Disorders

Book metrics overview

46,309 Chapter Downloads

View Full Metrics

Academic Editor

Maria Puiu
Maria Puiu

Victor Babeș University of Medicine and Pharmacy Timișoara

PublishedJanuary 9th, 2013

Doi10.5772/46039

ISBN978-953-51-0886-3

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

Copyright year2013

Number of pages354

Read more
Order Print Copy

Edited Volume and chapters are indexed in

  • Google Scholar
  • DOAB
  • Crossref
  • Dimension
  • OpenAIRE
  • AZ ebsco
  • Worldcat
Show more

Table of Contents

Open access  chapters

2. Laminopathies

By Tomás McKenna, Jean-Ha Baek and Maria Eriksson

3,254
2
3. Hutchinson-Gilford Progeria Syndrome

By Jean-Ha Baek, Tomás McKenna and Maria Eriksson

5,010
2
4. Genetic Determinants of Heart Rate Variation and Cardiovascular Diseases

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

2,615
1
5. Structural Insights Into Disease Mutations of the Ryanodine Receptor

By Zhiguang Yuchi, Lynn Kimlicka and Filip Van Petegem

3,729
2
6. The Genetics of Mental Retardation

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

4,027
1
7. Molecular Bases of Ataxia Telangiectasia: One Kinase Multiple Functions

By Venturina Stagni, Simonetta Santini and Daniela Barila

2,500
1
8. Epilepsy and Genetics

By Roya Vakili and Babak Kateby Kashy

2,503
9. Rett Syndrome: A Model of Genetic Neurodevelopmental Disorders

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

2,919
10. Genetic Diseases Associated with Protein Glycosylation Disorders in Mammals

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

4,477
2
11. Genetics and Obesity

By Maria Puiu, Adela Chirita Emandi and Smaranda Arghirescu

4,524
14. Cystic Fibrosis: Does CFTR Malfunction Alter pH Regulation?

By Douglas B. Luckie and Mauri E. Krouse

2,619

IMPACT OF THIS BOOK AND ITS CHAPTERS

46,309 Total Chapter Downloads

12 Crossref Citations

27 Web of Science Citations

35 Dimensions Citations

Order a print copy of this book

£139 (ex. VAT)*

Hardcover | Printed Full Colour

IntechOpen Contributor? Get your Discount

FREE SHIPPING WORLDWIDE

Order & Delivery info

* Residents of European Union countries need to add a Book Value-Added Tax Rate based on their country of residence. 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.

Instructor? Request an Exam Copy