Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Molecular Genetics of Stüve–Wiedemann Syndrome
Julia T Oxford
Published online: February 2016
Genetic Modifiers in Huntington Disease
Erin BD Clabough, Jefferson C Thompson, James H Lau, Melchior F Savarese, Evan C Harris, Sean T Manos, Charles T Kyle, John T Meinhardt, John W Sheffield, Michael D Boudin, Myshake S Abdi, John AS Mohay, Robert W Harriss, Mason E Luck, Alan M Owens, John W Britt
Published online: February 2016
Pituitary Gene Signalling Pathway
Odelia Cooper, Hidenori Fukuoka
Published online: February 2016
Molecular Genetics of Multiple Osteochondromas
Carlos E de Andrea, Pancras CW Hogendoorn, Judith VMG Bovée
Published online: January 2016
Mechanisms of RNA‐Induced Toxicity in Diseases Characterised by CAG Repeat Expansions
Judith Schilling, Nadine Griesche, Sybille Krauß
Published online: January 2016
Molecular Genetics of Hereditary Folate Malabsorption
David Watkins
Published online: January 2016
Genetics of Essential Tremor
Félix Javier Jiménez‐Jiménez, Hortensia Alonso‐Navarro, Elena García‐Martín, Sara Ortega‐Cubero, Pau Pastor, José AG Agúndez
Published online: January 2016
Fructose Metabolism Disorders
Timothy M Cox
Published online: December 2015
Copper Metabolism, ATP7A and Menkes Disease
Hannah Pierson, Svetlana Lutsenko, Zeynep Tümer
Published online: November 2015
Chromosomal Instability (CIN) in Cancer
Steven D Horne, Christine J Ye, Henry HQ Heng
Published online: November 2015
Iron‐Loading Anaemia
Edward J Jr Benz
Published online: November 2015
Complement: Deficiency Diseases
Lillemor Skattum, Lennart Truedsson
Published online: November 2015
Cholesterol Metabolism and Vascular Disease
Patrick Wainwright, Aidan Ryan, Rasaq Olufadi, Christopher D Byrne
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
Cystinuria
David S Goldfarb
Published online: July 2015
Splicing Modulation as Therapy for Human Genetic Disease
Umasuthan Srirangalingam, Bernard Khoo
Published online: July 2015
Mixed T‐ and B‐Lymphocyte Deficiency Disorders
Mauno Vihinen
Published online: June 2015
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