Molecular Genetics

2 Open Access Books

65 Authors and Editors

14 Web of Science Citations

31 Dimensions Citations

Most cited chapters in this category

Chapter titleDownloads
1. Missense Mutations in GDF-5 Signaling: Molecular Mechanisms Behind Skeletal Malformation

By Tina V. Hellmann, Joachim Nickel and Thomas D. Mueller

Part of book: Mutations in Human Genetic Disease

1579
2. Genetic Causes of Syndromic and Non-Syndromic Congenital Heart Disease

By Akl C. Fahed and Georges M. Nemer

Part of book: Mutations in Human Genetic Disease

2693
3. Activating Mutations and Targeted Therapy in Cancer

By Musaffe Tuna and Christopher I. Amos

Part of book: Mutations in Human Genetic Disease

2235

Most downloaded chapters in this category in last 30 days

Chapter title
1. Missense Mutation in the LDLR Gene: A Wide Spectrum in the Severity of Familial Hypercholesterolemia

By Mathilde Varret and Jean-Pierre Rabès

Part of book: Mutations in Human Genetic Disease

2. Genetic Causes of Syndromic and Non-Syndromic Congenital Heart Disease

By Akl C. Fahed and Georges M. Nemer

Part of book: Mutations in Human Genetic Disease

3. Activating Mutations and Targeted Therapy in Cancer

By Musaffe Tuna and Christopher I. Amos

Part of book: Mutations in Human Genetic Disease

4. Correlations with Point Mutations and Severity of Hemolitic Anemias: The Example of Hereditary Persistence of Fetal Hemoglobin with Sickle Cell Anemia and Beta Thalassemia

By Anderson Ferreira da Cunha, Iran Malavazi, Karen Simone Romanello and Cintia do Couto Mascarenhas

Part of book: Point Mutation

5. Pathophysiological Roles of Mutations in the Electrogenic Na+-HCO - Cotransporter NBCe1

By George Seki, Shoko Horita, Masashi Suzuki, Osamu Yamazaki and Hideomi Yamada

Part of book: Mutations in Human Genetic Disease

6. Genotype-Phenotype Disturbances of Some Biomarkers in Colorectal Cancer

By Mihaela Tica, Valeria Tica, Alexandru Naumescu, Mihaela Uta, Ovidiu Vlaicu and Elena Ionica

Part of book: Mutations in Human Genetic Disease

7. Missense Mutations in GDF-5 Signaling: Molecular Mechanisms Behind Skeletal Malformation

By Tina V. Hellmann, Joachim Nickel and Thomas D. Mueller

Part of book: Mutations in Human Genetic Disease

8. p53: Point Mutations, SNPs and Cancer

By Ming Fang, Iva Simeonova and Franck Toledo

Part of book: Point Mutation

9. Anderson’s Disease/Chylomicron Retention Disease and Mutations in the SAR1B Gene

By A. Sassolas, M. Di Filippo, L.P. Aggerbeck, N. Peretti and M.E. Samson-Bouma

Part of book: Mutations in Human Genetic Disease

10. Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation

By Riad Akoum

Part of book: Point Mutation