Specific Genetic Disorders

Pub Date A-Z
Chromosome 11
Daniela S Gerhard
Published online: January 2006
Chromosome 6
Bertram Müller‐Myhsok, Andreas Ziegler
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
Cystic Fibrosis (CF)
Lap‐Chee Tsui
Published online: January 2006
Friedreich Ataxia
Michel Koenig
Published online: January 2006
Protein Aggregation and Human Disorders
Robert D Moir, Rudolph E Tanzi
Published online: January 2006
Neonatal Screening
Neil A Holtzman
Published online: January 2006
Demyelinating Neuropathies: Hereditary
Clemens Oliver Hanemann
Published online: January 2006
Hemophilia and Other Bleeding Disorders: Genetics
John H McVey, Edward GD Tuddenham
Published online: January 2006
Iron Metabolism: Disorders
Nancy C Andrews
Published online: January 2006
Familial Hypercholesterolemia: Gene Therapy
Marina Cuchel, Daniel J Rader
Published online: January 2006
Craniofacial Abnormalities: Molecular Basis
Ulrich Müller
Published online: January 2006
Lysosomal Transport Disorders
Grazia MS Mancini, Frans W Verheijen
Published online: January 2006
Inherited Retinal Diseases: Vertebrate Animal Models
Wolfgang Baehr, Jeanne Frederick
Published online: January 2006
Chromosome 14
Deepak Kamnasaran, Diane W Cox
Published online: January 2006
Development: Disorders
Romeo Carrozzo, Edoardo Boncinelli
Published online: January 2006
Allelic and Locus Heterogeneity
Charles R Scriver
Published online: January 2006
Chromosome 17
Claes Wadelius
Published online: January 2006
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