Specific Genetic Disorders

Pub Date A-Z
CpG Dinucleotides and Human Disorders
Stylianos E Antonarakis
Published online: January 2006
3′ UTR Mutations and Human Disorders
Béatrice Conne, André Stutz, Jean‐Dominique Vassalli
Published online: January 2006
Transcription Factors and Human Disorders
Gregg L Semenza
Published online: January 2006
G‐protein‐mediated Signal Transduction and Human Disorders
Allen M Spiegel
Published online: January 2006
Thyroid Dysfunction: Molecular Genetics
Marian Ludgate, Dagmar Fuhrer
Published online: January 2006
Potassium Channels
William A Coetzee, Bernardo Rudy
Published online: January 2006
Diabetes: Genetics
Paul Zimmet, Ken Walder, Greg R Collier
Published online: January 2006
Presymptomatic Diagnosis
Jörg Schmidtke
Published online: January 2006
Neonatal Screening
Neil A Holtzman
Published online: January 2006
Hair Loss: Genetics
Alan Irvine
Published online: January 2006
Lysosomal Transport Disorders
Grazia MS Mancini, Frans W Verheijen
Published online: January 2006
Antitrypsin (AAT) Deficiency‐α1
Diane W Cox
Published online: January 2006
Wilms Tumor
Kathy Pritchard‐Jones
Published online: January 2006
Nevoid Basal Cell Carcinoma (Gorlin) Syndrome
Robert J Gorlin
Published online: January 2006
Activating and Inactivating Mutations in the GNAS1 Gene
Micheala A Aldred, Richard C Trembath
Published online: January 2006
Marfan Syndrome
Peter N Robinson
Published online: January 2006
Hypertrophic Cardiomyopathy
Christopher Semsarian, Man‐Wei Chung
Published online: January 2006
Genotype–Phenotype Relationships: Fatal Familial Insomnia and Creutzfeldt–Jakob Disease
Lev G Goldfarb
Published online: January 2006
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
Listings: back...   321-340   341-360   361-378