Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Congenital Adrenal Hyperplasia
Mabel Yau, Christian Pina, Ahmed Khattab, Maria I New
Published online: October 2014
Lecithin:Cholesterol Acyltransferase (LCAT) Deficiency: Molecular Genetics
Laura Calabresi, Alice Ossoli, Guido Franceschini
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
Molecular Genetics of Inherited Glucocorticoid Deficiency
Eirini Meimaridou, Julia Kowalczyk, Louise A Metherell
Published online: October 2014
Molecular Genetics of Joubert Syndrome
Francesca Mancini, Marta Romani, Alessia Micalizzi, Enza Maria Valente
Published online: October 2014
Molecular Genetics of 21‐Hydroxylase Deficiency
Silvia Parajes, Nils Krone
Published online: September 2014
Molecular Genetics of Costello Syndrome
Emma MM Burkitt Wright, Bronwyn Kerr
Published online: September 2014
Molecular Genetics of Human Congenital Limb Malformations
Joseph Pickering, Matthew Towers
Published online: September 2014
Molecular Genetics of Cataract
Alan Shiels, J Fielding Hejtmancik
Published online: September 2014
Genetics of Neonatal Autoimmune and Autoinflammatory Diseases
Inessa Bachove, Christopher Chang
Published online: September 2014
Histidine Triad (HIT) Superfamily
Charles Brenner
Published online: August 2014
Syndromes and Diseases Associated with the Notch Signalling Pathway
Peter D Turnpenny
Published online: August 2014
Upstream Open Reading Frames and Human Genetic Disease
Cristina Barbosa, Cláudia Onofre, Luísa Romão
Published online: August 2014
Impact of Missense Variants on Protein–Protein Interactions
Christopher M Yates, Michael JE Sternberg
Published online: August 2014
Molecular Mechanisms Underlying Pathogenic Missense Mutations
Bohua Wu, Julia Eggert, Emil Alexov
Published online: August 2014
DNA Interstrand Crosslink Repair
Wolfram Siede
Published online: August 2014
Proteoglycans
Nancy B Schwartz
Published online: August 2014
Molecular Genetics of Paget's Disease of Bone
Luigi Gennari, Fernando Gianfrancesco, Domenico Rendina, Daniela Merlotti
Published online: July 2014
Molecular Genetics of Congenital Diaphragmatic Hernia
Mauro Longoni, Meaghan K Russell, Barbara R Pober
Published online: July 2014
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