Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Mechanisms of RNA‐Induced Toxicity in Diseases Characterised by CAG Repeat Expansions
Judith Schilling, Nadine Griesche, Sybille Krauß
Published online: January 2016
Fructose Metabolism Disorders
Timothy M Cox
Published online: December 2015
Complement: Deficiency Diseases
Lillemor Skattum, Lennart Truedsson
Published online: November 2015
Copper Metabolism, ATP7A and Menkes Disease
Hannah Pierson, Svetlana Lutsenko, Zeynep Tümer
Published online: November 2015
Iron‐Loading Anaemia
Edward J Jr Benz
Published online: November 2015
Cholesterol Metabolism and Vascular Disease
Patrick Wainwright, Aidan Ryan, Rasaq Olufadi, Christopher D Byrne
Published online: November 2015
Chromosomal Instability (CIN) in Cancer
Steven D Horne, Christine J Ye, Henry HQ Heng
Published online: November 2015
X‐Linked Intellectual Disability Genetics
Charles E Schwartz
Published online: October 2015
Molecular Genetics of the IPEX Syndrome
Khalid Bin Dhuban, Ciriaco A Piccirillo
Published online: September 2015
LINC Complexes and Their Role in Human Disease
Alessandra Calvi, Brian Burke
Published online: August 2015
Transposons in Eukaryotes (Part B): Genomic Consequences of Transposition
Wolf‐Ekkehard Lönnig
Published online: August 2015
Splicing Modulation as Therapy for Human Genetic Disease
Umasuthan Srirangalingam, Bernard Khoo
Published online: July 2015
Cystinuria
David S Goldfarb
Published online: July 2015
Molecular Genetics of Creutzfeldt–Jakob Disease and Gerstmann– Sträussler– Scheinker Disease
Ellen Gelpi, Marti Colom‐Cadena, Herbert Budka
Published online: June 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 Limb‐Girdle Muscular Dystrophies
Massimiliano Filosto, Mauro Scarpelli, Alessandro Padovani
Published online: May 2015
Genetics and Epigenetics of Autoimmune Diseases
Orsia D Konsta, Christelle Le Dantec, Wesley H Brooks, Yves Renaudineau
Published online: May 2015
Platelets and Their Disorders
Maria Valeria Catani, Valeria Gasperi, Isabella Savini, Domenico Del Principe
Published online: April 2015
Genetics of Recessive Cognitive Disorders
Kimia Kahrizi, Hossein Najmabadi
Published online: March 2015
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