Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Splicing Modulation as Therapy for Human Genetic Disease
Umasuthan Srirangalingam, Bernard Khoo
Published online: July 2015
Amyloidosis
Merrill D Benson
Published online: June 2015
Mixed T‐ and B‐Lymphocyte Deficiency Disorders
Mauno Vihinen
Published online: June 2015
Molecular Genetics of Creutzfeldt–Jakob Disease and Gerstmann– Sträussler– Scheinker Disease
Ellen Gelpi, Marti Colom‐Cadena, Herbert Budka
Published online: June 2015
Genetics and Epigenetics of Autoimmune Diseases
Orsia D Konsta, Christelle Le Dantec, Wesley H Brooks, Yves Renaudineau
Published online: May 2015
Molecular Genetics of Limb‐Girdle Muscular Dystrophies
Massimiliano Filosto, Mauro Scarpelli, Alessandro Padovani
Published online: May 2015
Platelets and Their Disorders
Maria Valeria Catani, Valeria Gasperi, Isabella Savini, Domenico Del Principe
Published online: April 2015
Molecular Genetics of Aortic Aneurysms and Aortic Dissections
Ellen S Regalado, Dianna M Milewicz
Published online: March 2015
Genetics of Recessive Cognitive Disorders
Kimia Kahrizi, Hossein Najmabadi
Published online: March 2015
Porphyrias
Siddesh Besur, Herbert L Bonkovsky
Published online: February 2015
Renal Ciliopathies
Carsten Bergmann
Published online: January 2015
Intermediate Filaments
Fang Cheng, John E Eriksson
Published online: December 2014
Molecular Genetics of Gitelman Syndrome
Giacomo Colussi, Silvana Tedeschi, Alberto Bettinelli, Marie Louise Syrén
Published online: December 2014
Nucleotide Synthesis via Salvage Pathway
William L Nyhan
Published online: December 2014
NSD1, EZH2 and DNMT3A Overgrowth Genes and Their Associated Overgrowth Syndromes
Katrina Tatton‐Brown
Published online: November 2014
Membrane Traffic and Disease
Nuno Cláudio, Francisco JC Pereira, Duarte C Barral
Published online: November 2014
Genetics of Cerebellar and Vestibular Disorders
Carmen Martin‐Sierra, Teresa Requena, Jose A Lopez‐Escamez
Published online: October 2014
The Immunogenetics of the Autoimmune Myasthenias
Nick Willcox
Published online: October 2014
Molecular Genetics of Myopathies Caused by β‐Tropomyosin Mutations
Katarina Pelin, Minttu Marttila, Carina Wallgren‐Pettersson
Published online: October 2014
Lecithin:Cholesterol Acyltransferase (LCAT) Deficiency: Molecular Genetics
Laura Calabresi, Alice Ossoli, Guido Franceschini
Published online: October 2014
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