Specific Genetic Disorders

Pub Date A-Z
Gain‐of‐function Mutations in Human Genetic Disorders
Lee S Weinstein
Published online: January 2006
Hypertrophic Cardiomyopathy
Christopher Semsarian, Man‐Wei Chung
Published online: January 2006
Erythrocyte Membrane Disorders
Willian T Tse
Published online: January 2006
Skeletal Dysplasias: Genetics
Andrea Superti‐Furga, Sheila Unger
Published online: January 2006
Genotype–Phenotype Relationships: Fatal Familial Insomnia and Creutzfeldt–Jakob Disease
Lev G Goldfarb
Published online: January 2006
3′ UTR Mutations and Human Disorders
Béatrice Conne, André Stutz, Jean‐Dominique Vassalli
Published online: January 2006
Nevoid Basal Cell Carcinoma (Gorlin) Syndrome
Robert J Gorlin
Published online: January 2006
Potassium Channels
William A Coetzee, Bernardo Rudy
Published online: January 2006
Hair Loss: Genetics
Alan Irvine
Published online: January 2006
Trinucleotide Repeat Expansions: Disorders
David Nelson, Huda Zoghbi
Published online: January 2006
Autoimmune Disease: Genetics
Pere Santamaria, Yang Yang
Published online: September 2005
Cholesterol Metabolism Regulation
James E Metherall, Elizabeth A Nash, Darren C Warnick
Published online: September 2005
Alternative Promoters: Duchenne Muscular Dystrophy (DMD) Gene
Uri Nudel
Published online: September 2005
Duchenne Muscular Dystrophy (DMD) Gene
Kay Davies, Janet Fernihough
Published online: September 2005
Organic Acid Metabolism: Genetic Disorders
Bruce A Barshop
Published online: May 2005
Williams Syndrome
Howard M Lenhoff
Published online: July 2003
Haemoglobinopathies
Dimitris L Loukopoulos
Published online: July 2003
Lipoprotein Metabolism: Structure and Function
John D Brunzell, Alan Chait
Published online: May 2003
Renal Fanconi Syndrome
Michel Bergeron, André Gougoux
Published online: April 2001
Iron Overload and Chelation Therapy
Kenneth R Bridges
Published online: April 2001
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