Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Desminopathy
Lev G Goldfarb, Montse Olivé, Patrick Vicart, Hans H Goebel
Published online: December 2010
Tay–Sachs Disease
Michael Tropak, Don J Mahuran
Published online: December 2010
DNA Repair: Disorders
Alan R Lehmann, Mark O'Driscoll
Published online: October 2010
22q11 Deletion Syndrome: A Role for Tbx1 in Pharynx and Cardiovascular Development
Amelie Calmont, Peter Scambler
Published online: September 2010
Genetic Susceptibility to Autoimmune Disorders
Bernard R Lauwerys
Published online: June 2010
Biallelic Germline Mutations of Mismatch‐Repair Genes and Paediatric Malignancies
Katharina Wimmer, Julia Etzler
Published online: September 2009
Lipoproteins: Genetic Disorders
Anne K Soutar
Published online: September 2009
The Aetiologic Spectrum of Cerebellar Ataxia: Inherited Causes of Ataxia
Peter K Todd, J Paul Taylor
Published online: March 2009
Molecular Genetics of Chronic Pancreatitis
Richard Szmola, David C Whitcomb
Published online: March 2009
Genetic Variation: Human
Edward J Hollox
Published online: March 2009
Cytotoxicity of Aberrant Proteins
Aarthi Ashok, Ramanujan S Hegde
Published online: December 2008
Eye Disorders: Hereditary
Josseline Kaplan, Jean‐Michel Rozet
Published online: December 2008
Deafness: Hereditary
Jean‐Pierre Hardelin, Jacqueline Levilliers, Christine Petit
Published online: July 2008
Systemic Lupus Erythematosus: Genetic and Epigenetic View
Swapan K Nath, Amr H Sawalha
Published online: July 2008
Thrifty Genotype Hypothesis and Complex Genetic Disease
Pnina Vardi, Konstantin Bloch
Published online: March 2008
Human Chromosome Evolution
Gerald P Holmquist, Johannes Wienberg
Published online: March 2008
Single Nucleotide Polymorphism (SNP)
Anthony J Brookes
Published online: December 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
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