Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies
Carmen Espinós
Published online: September 2011
Noonan Syndrome
Marco Tartaglia, Bruce D Gelb
Published online: September 2011
Alternative Splicing: Role of Pseudoexons in Human Genetic Disease
Buratti Emanuele
Published online: September 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
Monogenic Hypercholesterolemia: Genetics
Ian N M Day
Published online: August 2011
Human Disease and the Desmosome
Martyn Chidgey
Published online: August 2011
Phenylketonuria
Flemming Güttler, Per Guldberg
Published online: August 2011
Gastrointestinal Tract: Molecular Genetics of Hirschsprung Disease
Eberhard Passarge
Published online: June 2011
RNA Editing and Human Disorders
Jonatha M Gott
Published online: June 2011
Molecular Genetics of Sleep Disorders
Emrah Caylak
Published online: June 2011
Multiple Endocrine Neoplasias
John W Kunstman, Tobias Carling
Published online: May 2011
Parkinson Disease
Taku Hatano, Nobutaka Hattori
Published online: May 2011
Peroxisome Biogenesis Disorders
Yukio Fujiki
Published online: May 2011
Facioscapulohumeral Muscular Dystrophy
Tawil Rabi, Silvere Van der Maarel
Published online: April 2011
Digenic Inheritance
Jerry Vockley
Published online: April 2011
Retinoblastoma
Dietmar R Lohmann, Brenda L Gallie
Published online: March 2011
Protein Interaction and Genetic Disease
Niels Gregersen, Peter Bross, Rikke KJ Olsen, Johan Palmfeldt, Thomas J Corydon
Published online: February 2011
Mutagenesis Mechanisms
Yaroslava Y Polosina, Claire G Cupples
Published online: February 2011
Gonadotropin Hormones: Disorders
Alejandro Martinez‐Aguayo, Mehul T Dattani, John C Achermann
Published online: February 2011
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