Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Thalassaemias
Deborah Hay, David J Weatherall
Published online:
Post‐Transcriptional Regulation of Gene Expression and Human Genetic Disease
Maria C Sterrett, Anita H Corbett
Published online: November 2019
Molecular Genetics of Oral‐Facial‐Digital Syndromes
Brunella Franco
Published online: November 2019
Impact of Chemical Modification on tRNA Function
Nathan W Howell, Jane E Jackman
Published online: November 2019
Molecular Genetics of Sorsby Fundus Dystrophy
Engin Akyol, Andrew Lotery
Published online: July 2019
Adenosine Deaminase Deficiency: From the Discovery of Its Molecular Pathogenesis to Targeted Therapy
Federico A Moretti, Frank JT Staal
Published online: July 2019
Genetics of Lowe Oculocerebrorenal Syndrome
Arend Bökenkamp, Michael Ludwig
Published online: June 2019
AIRE – The Autoimmune Regulator
Minoru Matsumoto, Hitoshi Nishijima, Junko Morimoto, Koichi Tsuneyama, Mitsuru Matsumoto
Published online: February 2019
Recently Mobilised Transposons in the Human Genome
Partha S Saha, Wenfeng An
Published online: January 2019
Genetics of the Pathophysiology of Retinoblastoma
Dietmar R Lohmann, Brenda L Gallie
Published online: December 2018
Molecular Genetics of Birt–Hogg–Dubé Syndrome
Laura S Schmidt
Published online: November 2018
Albinism: Genetics
William S Oetting, David Adams
Published online: November 2018
Molecular Genetics of the α‐Thalassaemias
Patricia Aguilar‐Martinez, Béatrice Gulbis
Published online: October 2018
Pathogenesis of Polyglutamine Diseases
Kentaro Sahashi, Masahisa Katsuno
Published online: October 2018
Facioscapulohumeral Muscular Dystrophy: Genetics
Frédérique Magdinier, Meena Upadhyaya
Published online: September 2018
De Novo Mutations in Human Inherited Disease
Sofia Oliveira, David N Cooper, Luisa Azevedo
Published online: September 2018
Genetics of Thyroid Hormone‐Binding Proteins
Alfonso Massimiliano Ferrara
Published online: September 2018
Cystic Fibrosis Gene: Identification
Johanna M Rommens
Published online: August 2018
Molecular Genetics of Hereditary Spastic Paraplegias
Maxime Boutry, Giovanni Stevanin
Published online: August 2018
Androgen Insensitivity
Iain J McEwan
Published online: July 2018
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