Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Comparative Genomic Hybridization in the Study of Human Disease
Sau Wai Cheung, Amber Nolen Pursley
Published online: November 2011
Genetic Imprinting in the Prader–Willi and Angelman Syndromes
Fiorella Gurrieri, Eugenio Sangiorgi
Published online: November 2011
Plant Storage Products (Carbohydrates, Oils and Proteins)
Allison R Kermode
Published online: November 2011
Genetics of the Autosomal Dominant Spinocerebellar Ataxias
Marc Corral‐Juan, Jordi Corral, Héctor San Nicolás, Victor Volpini, Antoni Matilla‐Dueñas
Published online: October 2011
Cardiofaciocutaneous (CFC) Syndrome
Ellen Denayer, Eric Legius
Published online: September 2011
Capillary Malformation–Arteriovenous Malformation and RASA1 Mutations
Laurence M Boon, Nicole Revencu, Miikka Vikkula
Published online: September 2011
Noonan Syndrome
Marco Tartaglia, Bruce D Gelb
Published online: September 2011
Colour Vision Defects
Maureen Neitz, Katherine Mancuso, Jay Neitz
Published online: September 2011
Alternative Splicing: Role of Pseudoexons in Human Genetic Disease
Buratti Emanuele
Published online: September 2011
Retrotransposons and Human Disease
Astrid M Roy‐Engel, Victoria P Belancio
Published online: September 2011
Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies
Carmen Espinós
Published online: September 2011
Human Disease and the Desmosome
Martyn Chidgey
Published online: August 2011
Monogenic Hypercholesterolemia: Genetics
Ian N M Day
Published online: August 2011
Phenylketonuria
Flemming Güttler, Per Guldberg
Published online: August 2011
RNA Editing and Human Disorders
Jonatha M Gott
Published online: June 2011
Gastrointestinal Tract: Molecular Genetics of Hirschsprung Disease
Eberhard Passarge
Published online: June 2011
Molecular Genetics of Sleep Disorders
Emrah Caylak
Published online: June 2011
Peroxisome Biogenesis Disorders
Yukio Fujiki
Published online: May 2011
Multiple Endocrine Neoplasias
John W Kunstman, Tobias Carling
Published online: May 2011
Parkinson Disease
Taku Hatano, Nobutaka Hattori
Published online: May 2011
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