Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Molecular Genetics of Congenital Adrenal Hyperplasia
Silvia Parajes, Nils Krone
Published online: March 2012
Molecular Genetics of Dravet Syndrome
Sarah Weckhuysen, Arvid Suls, Peter de Jonghe
Published online: March 2012
Genetics of Glomerular Basement Membrane Disorders
Clifford E Kashtan
Published online: March 2012
Protein Disorder and Human Genetic Disease
Vladimir N Uversky, Lilia M Iakoucheva, A Keith Dunker
Published online: February 2012
Genetics of Silver–Russell Syndrome
Thomas Eggermann
Published online: February 2012
Molecular Genetics of Williams–Beuren Syndrome
Giuseppe Merla, Lucia Micale, Carmela Fusco, Maria Nicla Loviglio
Published online: January 2012
Microdeletion Syndromes
Anne Slavotinek
Published online: January 2012
Tuberous Sclerosis: Genetics
Andrew R Tee, Julian R Sampson, D Mark Davies
Published online: January 2012
Molecular Genetics of Pulmonary Hypertension
Laura Southgate, Rajiv D Machado
Published online: December 2011
Molecular Genetics of Coeliac Disease
Vanisha Mistry, David van Heel
Published online: December 2011
Multiple Sclerosis (MS): Genetics
DA Dyment, GC Ebers
Published online: December 2011
Albinism: Genetics
William S Oetting
Published online: December 2011
Comparative Genomic Hybridization in the Study of Human Disease
Sau Wai Cheung, Amber Nolen Pursley
Published online: November 2011
Plant Storage Products (Carbohydrates, Oils and Proteins)
Allison R Kermode
Published online: November 2011
Severe Combined Immune Deficiency (SCID): Genetics
A Fischer
Published online: November 2011
Titin Gene (TTN)
Siegfried Labeit, Julius Bogomolovas, Dietmar Labeit, Henk Granzier
Published online: November 2011
Genetic Imprinting in the Prader–Willi and Angelman Syndromes
Fiorella Gurrieri, Eugenio Sangiorgi
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
Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies
Carmen Espinós
Published online: September 2011
Retrotransposons and Human Disease
Astrid M Roy‐Engel, Victoria P Belancio
Published online: September 2011
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