Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Factor V Leiden
Björn Dahlbäck
Published online: September 2016
Diamond–Blackfan Anaemia: From Genotype to Phenotype
Nahuel A Paolini, Alyson W MacInnes, Marieke von Lindern
Published online: August 2016
Microsatellites
Sabine Hoffjan, Jörg T Epplen
Published online: August 2016
Cis‐Regulatory Mutations in Human Disease
Adam Douglas, Silvia Peluso, Laura A Lettice, Robert E Hill
Published online: August 2016
Assessment of Disease‐Associated Sequence Variants and Considerations for Functional Validation using Mouse Models
Timothy C Cox, Liza L Cox
Published online: August 2016
Gene and Cell Therapy for Inherited Retinal Dystrophies
Marcela Garita‐Hernandez, Olivier Goureau, Deniz Dalkara
Published online: August 2016
Role of Plakins in Human Genetic Disease
Bertrand Favre, Luca Borradori
Published online: May 2016
Molecular Genetics of Pancreatic Endocrine Tumours
Venkata S Katabathina, Robert (Dan) Wilcoxson, Srinivasa R Prasad
Published online: May 2016
Genetics of Human Zinc Deficiencies
Christer Hogstrand, Wolfgang Maret
Published online: April 2016
Thymidylate Synthesis
Martha S Field, Patrick J Stover, Roy Kisliuk
Published online: April 2016
Molecular Genetics of Cherubism
Ernst J Reichenberger, Yasuyoshi Ueki
Published online: March 2016
Molecular Genetics of the Fibrillinopathies
Mélodie Aubart, Louise Benarroch, Pauline Arnaud, Gwenaëlle Collod‐Béroud, Guillaume Jondeau, Catherine Boileau
Published online: March 2016
Molecular Genetics of OXPHOS Disorders
Alberto Blázquez, Joaquín Arenas, Miguel A Martín
Published online: March 2016
Pituitary Gene Signalling Pathway
Odelia Cooper, Hidenori Fukuoka
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
Molecular Genetics in Acromegaly
Paraskevi Xekouki, Constantine A Stratakis
Published online: February 2016
Subcellular Protein Localisation in Health and Disease
Claudia Florindo, Bibiana I Ferreira, Sónia M Serrão, Álvaro A Tavares, Wolfgang Link
Published online: February 2016
Molecular Genetics of Stüve–Wiedemann Syndrome
Julia T Oxford
Published online: February 2016
Development of the Mammalian Gonad: Key Sex‐Determining Genes in Mice and Humans
Nick Warr, Andy Greenfield
Published online: February 2016
Molecular Genetics of Hereditary Folate Malabsorption
David Watkins
Published online: January 2016
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