Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Genetics of Recessive Cognitive Disorders
Kimia Kahrizi, Hossein Najmabadi
Published online: March 2015
Porphyrias
Siddesh Besur, Herbert L Bonkovsky
Published online: February 2015
Renal Ciliopathies
Carsten Bergmann
Published online: January 2015
Nucleotide Synthesis via Salvage Pathway
William L Nyhan
Published online: December 2014
Intermediate Filaments
Fang Cheng, John E Eriksson
Published online: December 2014
Molecular Genetics of Gitelman Syndrome
Giacomo Colussi, Silvana Tedeschi, Alberto Bettinelli, Marie Louise Syrén
Published online: December 2014
Membrane Traffic and Disease
Nuno Cláudio, Francisco JC Pereira, Duarte C Barral
Published online: November 2014
NSD1, EZH2 and DNMT3A Overgrowth Genes and Their Associated Overgrowth Syndromes
Katrina Tatton‐Brown
Published online: November 2014
Lecithin:Cholesterol Acyltransferase (LCAT) Deficiency: Molecular Genetics
Laura Calabresi, Alice Ossoli, Guido Franceschini
Published online: October 2014
Molecular Genetics of Inherited Glucocorticoid Deficiency
Eirini Meimaridou, Julia Kowalczyk, Louise A Metherell
Published online: October 2014
Genetics of Cerebellar and Vestibular Disorders
Carmen Martin‐Sierra, Teresa Requena, Jose A Lopez‐Escamez
Published online: October 2014
Congenital Adrenal Hyperplasia
Mabel Yau, Christian Pina, Ahmed Khattab, Maria I New
Published online: October 2014
The Immunogenetics of the Autoimmune Myasthenias
Nick Willcox
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 Myopathies Caused by β‐Tropomyosin Mutations
Katarina Pelin, Minttu Marttila, Carina Wallgren‐Pettersson
Published online: October 2014
Molecular Genetics of Cataract
Alan Shiels, J Fielding Hejtmancik
Published online: September 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
Genetics of Neonatal Autoimmune and Autoinflammatory Diseases
Inessa Bachove, Christopher Chang
Published online: September 2014
Molecular Genetics of Human Congenital Limb Malformations
Joseph Pickering, Matthew Towers
Published online: September 2014
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