275 matches found
in topic Genetics & Disease
Molecular Genetics of Hereditary Spastic Paraplegias
Giuseppe Novelli, Gianmarco Contino
Published online: September 2009
Genotype–Phenotype Relationships
David J Weatherall
Published online: March 2009
Disorders with Synuclein Pathology and Parkinsonism
Laura L Kilarski, Vladimir L Buchman, Huw R Morris
Published online: March 2009
The Molecular Genetics of Schwannomatosis
Theo JM Hulsebos
Published online: March 2009
Smith–Magenis Syndrome
Sarah H Elsea, Brenda Finucane
Published online: March 2009
Coffin–Lowry Syndrome
André Hanauer
Published online: March 2009
Molecular Genetics of Usher Syndrome
Hannie Kremer, Erwin van Wijk
Published online: March 2009
Molecular Genetics of Chronic Pancreatitis
Richard Szmola, David C Whitcomb
Published online: March 2009
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 Familial Mediterranean Fever
Levon Yepiskoposyan, Ashot Harutyunyan
Published online: December 2008
Molecular Genetics of von Willebrand Disease
Derrick John Bowen
Published online: December 2008
Molecular Genetics of Inherited Hypophosphataemias
Armando Luis Negri
Published online: December 2008
Deafness: Hereditary
Jean‐Pierre Hardelin, Jacqueline Levilliers, Christine Petit
Published online: July 2008
Inherited Neuromuscular Disease
Toby A Ferguson, David R Lynch
Published online: May 2008
Disorders of Cholesterol Biosynthesis, Genetics of
Carrie A Phillipi, Robert D Steiner
Published online: May 2008
Rett Syndrome
Margaret K Bradbury, Kristen C Hoffbuhr, Eric P Hoffman
Published online: September 2007
Inherited Muscle Disease: Gene Therapy
Terence Partridge
Published online: September 2007
Chromosome 1
Peter S White
Published online: September 2007
Facioscapulohumeral Muscular Dystrophy: Genetics
Meena Upadhyaya
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
Lissencephaly, Genetics of
Sandrine Passemard, François Challard, Alain Verloes, Pierre Gressens
Published online: September 2007