Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Molecular Genetics of Galactosaemia
David J Timson
Published online: May 2017
Vitamin B12: Disorders of Absorption and Metabolism
David Watkins, David S Rosenblatt
Published online: May 2017
Glycogen Storage Diseases
Timothy M Cox
Published online: April 2017
Molecular Genetics of Hermansky–Pudlak Syndrome
Marjan Huizing, Bernadette R Gochuico, William A Gahl, May Christine V Malicdan
Published online: April 2017
Disorders of Cholesterol Biosynthesis, Genetics of
Shibani Kanungo, Robert D Steiner
Published online: March 2017
Molecular Genetics of Hypertriglyceridaemia
Jacqueline S Dron, Robert A Hegele
Published online: March 2017
Autophagy
Hans‐Uwe Simon, Robert Friis, María I Colombo
Published online: March 2017
Anophthalmia/Microphthalmia/Coloboma (MAC)
Adele Schneider, Sarina Kopinsky
Published online: March 2017
Alternative Splicing and Human Disease
Stefan Stamm
Published online: January 2017
Inherited Neuromuscular Disease
Elizabeth A Kichula, Toby A Ferguson, David R Lynch
Published online: January 2017
CpG Island Methylator Phenotype in Cancer
Jung H Kim, Jeong M Bae, Gyeong H Kang
Published online: January 2017
Genetics of Human Laminopathies
Giuseppe Novelli, Maria Rosaria D'Apice
Published online: January 2017
Genetics of Pituitary Adenoma
Hidenori Fukuoka
Published online: January 2017
Receptors and Human Nervous System Disorders
Frédéric Knoflach, Daniel Bertrand
Published online: January 2017
Genetics and Epigenetics of Hydatidiform Moles
Rima Slim, Yassemine Khawajkie, Kurosh Rahimi, Philippe Sauthier
Published online: January 2017
Gene Discovery in Lethal Foetal Disorders
Isabel Filges
Published online: January 2017
Role of ATRX Chromatin Remodelling Factor in α‐Thalassaemia X‐Linked Mental Retardation
Kevin G Young, David J Picketts
Published online: November 2016
Molecular Genetics of Myhre Syndrome
Caroline Michot, Carine Le Goff, Valérie Cormier‐Daire
Published online: November 2016
Phenylketonuria (PKU)
Eugene Gonzalez‐Lopez, Ashley J McFalls, Kent E Vrana
Published online: November 2016
Genetics of Aortic Aneurysmal Disease
Bradley J Toghill, Athanasios Saratzis, Lakmini S Liyanage, David Sidloff, Matthew J Bown
Published online: November 2016
Listings: 1-20   21-40   41-60   61-80   more...