Specific Genetic Disorders

Pub Date A-Z
Cystathionine β‐synthase (CBS) Deficiency: Genetics
Viktor Kožich, Warren D Kruger, Jan Peter Kraus
Published online: December 2010
Pancreatic Cancer: Molecular Genetics and Clinical Applications
George H Sakorafas, Irene Pappa, Vasileios Smyrniotis
Published online: December 2010
Tay–Sachs Disease
Michael Tropak, Don J Mahuran
Published online: December 2010
Desminopathy
Lev G Goldfarb, Montse Olivé, Patrick Vicart, Hans H Goebel
Published online: December 2010
Multiple Endocrine Neoplasia Type 2
Friedhelm Raue, Karin Frank‐Raue
Published online: November 2010
Androgen Insensitivity
Albert O Brinkmann
Published online: November 2010
DNA Repair: Disorders
Alan R Lehmann, Mark O'Driscoll
Published online: October 2010
Gap Junctions and Connexins: The Molecular Genetics of Deafness
Regina Nickel, Andrew Forge
Published online: October 2010
Legius Syndrome and SPRED1
Hilde Brems, Thomy de Ravel, Eric Legius
Published online: October 2010
Epilepsy: Genetics
Kate V Everett
Published online: October 2010
Glucose‐6‐phosphate Dehydrogenase (G6PD) Deficiency: Genetics
Philip J Mason, Thomas J Vulliamy
Published online: September 2010
Molecular Genetics of Hereditary Spastic Paraplegias
Giovanni Stevanin
Published online: September 2010
LDL Receptor and Its Role in Inherited Disease
Anne K Soutar
Published online: September 2010
Molecular Genetics of the α‐Thalassaemias
Patricia Aguilar‐Martinez, Béatrice Gulbis
Published online: September 2010
Modifier Genes in the Haemoglobinopathies
Rosalba Di Marzo, Roberta Calzolari, Deborah Rund, Aurelio Maggio
Published online: September 2010
Tuberous Sclerosis Complex and the Mammalian Target of Rapamycin Pathways
Jane Yu
Published online: September 2010
Autosomal Dominant Polycystic Kidney Disease
M Amin Arnaout
Published online: September 2010
Genetics of Retinal Disease
Peter J Francis
Published online: September 2010
Porphyrias: Genetics
George H Elder
Published online: September 2010
Genetic Basis of Monogenic Forms of Parkinson Disease
Kathrin Brockmann, Thomas Gasser
Published online: April 2010
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