Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Red Cell Membrane and Transport Systems: Hereditary Disorders
Ronald L Nagel
Published online: April 2006
Growth Disorders: Hereditary
John A Phillips
Published online: January 2006
Activating and Inactivating Mutations in the GNAS1 Gene
Micheala A Aldred, Richard C Trembath
Published online: January 2006
Genotype–Phenotype Relationships: Fatal Familial Insomnia and Creutzfeldt–Jakob Disease
Lev G Goldfarb
Published online: January 2006
Position Effect Variegation in Human Genetic Disease
Timothy J Parnell, Stephanie K Grade, Pamela K Geyer, Lori L Wallrath
Published online: January 2006
Clinical Molecular Cytogenetics
Serge P Romana, Michel Vekemans
Published online: January 2006
Genetic Disorders
Ulrich Langenbeck
Published online: January 2006
Spontaneous Function Correction of Pathogenic Alleles in Inherited Diseases Resulting in Somatic Mosaicism
Quinten Waisfisz, Hans Joenje
Published online: January 2006
Hamartomatous Polyposis Syndromes: Peutz–Jeghers Syndrome and Familial Juvenile Polyposis
Ian PM Tomlinson
Published online: January 2006
Venous Thrombosis: Genetics
Pieter H Reitsma
Published online: January 2006
Nonsense‐mediated mRNA Decay
Joshua T Mendell, Harry C Dietz
Published online: January 2006
Path Analysis in Genetic Epidemiology
DC Rao, Treva Rice
Published online: January 2006
Development: Disorders
Romeo Carrozzo, Edoardo Boncinelli
Published online: January 2006
Medical Genetics: History
Friedrich Vogel
Published online: January 2006
Mutation Rate: Sex Biases
Laurence D Hurst
Published online: January 2006
Prostate Cancer
Walther Vogel, Christiane Maier, Thomas Paiss
Published online: January 2006
In Vitro Mutagenesis
Derrick John Bowen
Published online: January 2006
3′ UTR Mutations and Human Disorders
Béatrice Conne, André Stutz, Jean‐Dominique Vassalli
Published online: January 2006
Gain‐of‐function Mutations in Human Genetic Disorders
Lee S Weinstein
Published online: January 2006
Barrett Esophagus
Carlo C Maley, Brian J Reid
Published online: January 2006
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