Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Biallelic Germline Mutations of Mismatch‐Repair Genes and Paediatric Malignancies
Katharina Wimmer, Julia Etzler
Published online: September 2009
Molecular Genetics of Chronic Pancreatitis
Richard Szmola, David C Whitcomb
Published online: March 2009
The Aetiologic Spectrum of Cerebellar Ataxia: Inherited Causes of Ataxia
Peter K Todd, J Paul Taylor
Published online: March 2009
Genetic Variation: Human
Edward J Hollox
Published online: March 2009
Eye Disorders: Hereditary
Josseline Kaplan, Jean‐Michel Rozet
Published online: December 2008
Cytotoxicity of Aberrant Proteins
Aarthi Ashok, Ramanujan S Hegde
Published online: December 2008
Systemic Lupus Erythematosus: Genetic and Epigenetic View
Swapan K Nath, Amr H Sawalha
Published online: July 2008
Deafness: Hereditary
Jean‐Pierre Hardelin, Jacqueline Levilliers, Christine Petit
Published online: July 2008
Human Chromosome Evolution
Gerald P Holmquist, Johannes Wienberg
Published online: March 2008
Thrifty Genotype Hypothesis and Complex Genetic Disease
Pnina Vardi, Konstantin Bloch
Published online: March 2008
Single Nucleotide Polymorphism (SNP)
Anthony J Brookes
Published online: December 2007
Facioscapulohumeral Muscular Dystrophy: Genetics
Meena Upadhyaya
Published online: September 2007
Trinucleotide Repeat Expansions: Mechanisms and Disease Associations
Jörg T Epplen, Stefan Wieczorek
Published online: September 2007
Identification of Disease Genes by CGH Microarrays
Joris A Veltman, Terry Vrijenhoek
Published online: July 2007
RNA Processing and Human Disorders
Fabrice Lejeune, Lynne E Maquat
Published online: January 2007
Mouse N‐ethyl‐N‐nitrosourea (ENU) Mutagenesis
Monica J Justice, Jennifer L Northrop
Published online: September 2006
Genotype‐Phenotype Relationships
Stanislas Lyonnet, Josué Feingold, Jean Frézal
Published online: September 2006
Cystic Fibrosis Transmembrane Conductance Regulator Sequences: Comparative Analysis
Jian‐Min Chen, Guillaume Lecointre, Erick Denamur, Claude Férec
Published online: September 2006
Transcriptional Channelopathies of the Nervous System
Stephen G Waxman
Published online: September 2006
Anticipation
Michael O'Donovan
Published online: July 2006
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