Mutational Mechanisms of Genetic Disease

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Pub Date A-Z
Titin Gene (TTN)
Siegfried Labeit, Julius Bogomolovas, Dietmar Labeit, Henk Granzier
Published online: November 2011
Severe Combined Immune Deficiency (SCID): Genetics
A Fischer
Published online: November 2011
Chronic Myeloproliferative Neoplasms: Clinical and Molecular Genetics
Maher Albitar
Published online: October 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
Retrotransposons and Human Disease
Astrid M Roy‐Engel, Victoria P Belancio
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
Noonan Syndrome
Marco Tartaglia, Bruce D Gelb
Published online: September 2011
Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies
Carmen Espinós
Published online: September 2011
Alternative Splicing: Role of Pseudoexons in Human Genetic Disease
Buratti Emanuele
Published online: September 2011
Colour Vision Defects
Maureen Neitz, Katherine Mancuso, Jay Neitz
Published online: September 2011
Monogenic Hypercholesterolemia: Genetics
Ian N M Day
Published online: August 2011
Spinal Muscular Atrophy
Michelle A Farrar, Matthew C Kiernan
Published online: August 2011
Human Disease and the Desmosome
Martyn Chidgey
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
Molecular Genetics of Sleep Disorders
Emrah Caylak
Published online: June 2011
Gastrointestinal Tract: Molecular Genetics of Hirschsprung Disease
Eberhard Passarge
Published online: June 2011
Peroxisome Biogenesis Disorders
Yukio Fujiki
Published online: May 2011
Lesch–Nyhan Disease
JE Visser, HA Jinnah
Published online: May 2011
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