Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Molecular Genetics of Hermansky–Pudlak Syndrome
Marjan Huizing, Bernadette R Gochuico, William A Gahl, May Christine V Malicdan
Published online: April 2017
Glycogen Storage Diseases
Timothy M Cox
Published online: April 2017
Autophagy
Hans‐Uwe Simon, Robert Friis, María I Colombo
Published online: March 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
Anophthalmia/Microphthalmia/Coloboma (MAC)
Adele Schneider, Sarina Kopinsky
Published online: March 2017
Gene Discovery in Lethal Foetal Disorders
Isabel Filges
Published online: January 2017
Alternative Splicing and Human Disease
Stefan Stamm
Published online: January 2017
Genetics of Pituitary Adenoma
Hidenori Fukuoka
Published online: January 2017
Genetics of Human Laminopathies
Giuseppe Novelli, Maria Rosaria D'Apice
Published online: January 2017
Genetics and Epigenetics of Hydatidiform Moles
Rima Slim, Yassemine Khawajkie, Kurosh Rahimi, Philippe Sauthier
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
Receptors and Human Nervous System Disorders
Frédéric Knoflach, Daniel Bertrand
Published online: January 2017
Congenital Disorders of Glycosylation (CDG): Review
Peter Witters, Eva Morava
Published online: November 2016
Molecular Genetics of Fibrodysplasia Ossificans Progressiva
Irina Hüning, Gabriele Gillessen‐Kaesbach
Published online: November 2016
Molecular Genetics of Myhre Syndrome
Caroline Michot, Carine Le Goff, Valérie Cormier‐Daire
Published online: November 2016
Molecular Genetics of Craniosynostosis
Wanda Lattanzi
Published online: November 2016
Molecular Genetics of Dystonia
Katja Lohmann
Published online: November 2016
Phenylketonuria (PKU)
Eugene Gonzalez‐Lopez, Ashley J McFalls, Kent E Vrana
Published online: November 2016
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