Specific Genetic Disorders

Pub Date A-Z
Molecular Genetics of Inherited Disorders of Epidermal Keratins
Eli Sprecher
Published online: March 2009
Molecular Genetics of Chronic Pancreatitis
Richard Szmola, David C Whitcomb
Published online: March 2009
Coffin–Lowry Syndrome
André Hanauer
Published online: March 2009
Smith–Magenis Syndrome
Sarah H Elsea, Brenda Finucane
Published online: March 2009
Molecular Genetics of Inherited Hypophosphataemias
Armando Luis Negri
Published online: December 2008
Eye Disorders: Hereditary
Josseline Kaplan, Jean‐Michel Rozet
Published online: December 2008
Intellectual Disability: Genetics
Samantha JL Knight
Published online: December 2008
Molecular Genetics of von Willebrand Disease
Derrick John Bowen
Published online: December 2008
Deafness: Hereditary
Jean‐Pierre Hardelin, Jacqueline Levilliers, Christine Petit
Published online: July 2008
Inherited Disorders of Glycosylation
Susan E Sparks
Published online: September 2007
Bardet‐Biedl Syndrome, an Oligogenic Disease
Yangfan Liu, Norann A Zaghloul, Nicholas Katsanis
Published online: September 2007
Inherited Muscle Disease: Gene Therapy
Terence Partridge
Published online: September 2007
Chromosome 1
Peter S White
Published online: September 2007
Rett Syndrome
Margaret K Bradbury, Kristen C Hoffbuhr, Eric P Hoffman
Published online: September 2007
Insights into the Molecular Basis of Kallman Syndrome
Youli Hu, Soo‐Hyun Kim, Steven Mark Cadman, Pierre‐Marc Bouloux
Published online: September 2007
Facioscapulohumeral Muscular Dystrophy: Genetics
Meena Upadhyaya
Published online: September 2007
The Genetics of Neuronal Channelopathies
Shaochun Ma, John Jay Gargus
Published online: July 2007
Chromosome 2
Christopher N Vlangos, Friedhelm Hildebrandt
Published online: July 2007
Leber Hereditary Optic Neuropathy (LHON)
Liesbeth Spruijt
Published online: July 2007
Diabetes Mellitus: Gene Therapy
Andreea R Barbu, Nils Welsh
Published online: July 2007
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