Specific Genetic Disorders

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Pub Date A-Z
Spinal Muscular Atrophy
Michelle A Farrar, Matthew C Kiernan
Published online: August 2011
Monogenic Hypercholesterolemia: Genetics
Ian N M Day
Published online: August 2011
Biological/Biochemical Features and Molecular Genetics of Specific Language Impairment (SLI)
Emrah Caylak
Published online: July 2011
Chronic Obstructive Pulmonary Disease
RA Stockley
Published online: June 2011
Gastrointestinal Tract: Molecular Genetics of Hirschsprung Disease
Eberhard Passarge
Published online: June 2011
Parkinson Disease
Taku Hatano, Nobutaka Hattori
Published online: May 2011
Lesch–Nyhan Disease
JE Visser, HA Jinnah
Published online: May 2011
Multiple Endocrine Neoplasias
John W Kunstman, Tobias Carling
Published online: May 2011
Peroxisome Biogenesis Disorders
Yukio Fujiki
Published online: May 2011
Molecular and Cellular Basis of Learning Difficulties in Genetic Disorders
Cortney Crego, Anthony Landreth, Alcino J Silva
Published online: April 2011
Facioscapulohumeral Muscular Dystrophy
Tawil Rabi, Silvere Van der Maarel
Published online: April 2011
Brain Tumours
Giselle Y López, Thomas J Cummings, Darell D Bigner, Roger E McLendon
Published online: March 2011
Factor V Leiden
Björn Dahlbäck
Published online: March 2011
Retinoblastoma
Dietmar R Lohmann, Brenda L Gallie
Published online: March 2011
Gonadotropin Hormones: Disorders
Alejandro Martinez‐Aguayo, Mehul T Dattani, John C Achermann
Published online: February 2011
Primary Immunodeficiency Affecting the Innate Immune System
Sergio D Rosenzweig
Published online: February 2011
Gain‐ and Loss‐of‐function Mutations in Trypsinogen
Jian‐Min Chen, Claude Férec
Published online: February 2011
Schizophrenia and 22q11.2 Deletion Syndrome
Frederick Sundram, Kieran C Murphy
Published online: January 2011
Ion Transport across Nonexcitable Membranes
Luis Reuss
Published online: January 2011
Mucopolysaccharide Storage Disorders
Mirella Filocamo, David N Cooper, Maja Di Rocco
Published online: January 2011
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