Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Ornithine Transcarbamylase Deficiency: Genetics
Luisa Azevedo, Ana Sofia Oliveira, Antonio Amorim
Published online: August 2017
Molecular Genetics of Inherited Thrombocytopenias
Anna Savoia
Published online: August 2017
Molecular Genetics of Isolated Acromesomelic Dysplasia
Saad U Khan, Sher A Khan, Noor Muhammad
Published online: August 2017
Genetics of Hereditary Large Vessel Diseases
Takayuki Morisaki, Hiroko Morisaki
Published online: August 2017
Inherited Pulmonary Disorders
Stefan J Marinicak, David A Lomas
Published online: August 2017
Molecular Genetics of Menkes Disease
Heather S Comstra, Victor Faundez
Published online: July 2017
Molecular Genetics of Hyperaldosteronism
Ute I Scholl
Published online: July 2017
Genotype–Phenotype Relationship in Inherited Disorders of Hearing Impairment
Lies H Hoefsloot, Anne‐Francoise Roux
Published online: July 2017
Lamins in Inherited Disease
Lucio Comai
Published online: July 2017
Genetics of Mevalonate Kinase Deficiency
Grant S Schulert
Published online: July 2017
DNA Methylation and Mutation
Gerd P Pfeifer
Published online: June 2017
Neutrophil Functional Disorders
Annemarie van de Geer, Roel P Gazendam, Taco W Kuijpers, Dirk Roos
Published online: June 2017
Vitamin B12: Disorders of Absorption and Metabolism
David Watkins, David S Rosenblatt
Published online: May 2017
Molecular Genetics of Galactosaemia
David J Timson
Published online: May 2017
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
Disorders of Cholesterol Biosynthesis, Genetics of
Shibani Kanungo, Robert D Steiner
Published online: March 2017
Autophagy
Hans‐Uwe Simon, Robert Friis, María I Colombo
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
Listings: 1-20   21-40   41-60   61-80   more...