Specific Genetic Disorders

Pub Date A-Z
Globin Genes: Polymorphic Variants and Mutations
John Michael Old
Published online: January 2006
Cystic Fibrosis
Jane C Davies, Uta Griesenbach, Duncan M Geddes, Eric WFW Alton
Published online: January 2006
Transcription Factors and Human Disorders
Gregg L Semenza
Published online: January 2006
Hereditary Nonpolyposis Colorectal Cancer
Ian Frayling
Published online: January 2006
Hamartomatous Polyposis Syndromes: Peutz–Jeghers Syndrome and Familial Juvenile Polyposis
Ian PM Tomlinson
Published online: January 2006
Autoimmune Disease: Genetics
Pere Santamaria, Yang Yang
Published online: September 2005
Duchenne Muscular Dystrophy (DMD) Gene
Kay Davies, Janet Fernihough
Published online: September 2005
Alternative Promoters: Duchenne Muscular Dystrophy (DMD) Gene
Uri Nudel
Published online: September 2005
Cystic Fibrosis Gene: Identification
Johanna M Rommens
Published online: September 2005
Cholesterol Metabolism Regulation
James E Metherall, Elizabeth A Nash, Darren C Warnick
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
Huntington Disease
James F Gusella
Published online: April 2001
Renal Fanconi Syndrome
Michel Bergeron, André Gougoux
Published online: April 2001
Iron Overload and Chelation Therapy
Kenneth R Bridges
Published online: April 2001
Inborn Errors of Metabolism
Nancy D Leslie, Gregory A Grabowski
Published online: April 2001
Globin Synthesis
Steven Fiering, David IK Martin, Eric E Bouhassira
Published online: April 2001
Haemophilias
Johannes Walter, Katherine High
Published online: April 2001
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