Specific Genetic Disorders

Pub Date A-Z
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
DNA Strand Break Repair and Human Genetic Disease
Tatiana García‐Muse, Andrés Aguilera
Published online: January 2011
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
Cystathionine β‐synthase (CBS) Deficiency: Genetics
Viktor Kožich, Warren D Kruger, Jan Peter Kraus
Published online: December 2010
Genetics of X‐linked Mental Retardation
Małgorzata Zofia Lisik
Published online: November 2010
Androgen Insensitivity
Albert O Brinkmann
Published online: November 2010
Multiple Endocrine Neoplasia Type 2
Friedhelm Raue, Karin Frank‐Raue
Published online: November 2010
DNA Helicase‐deficiency Disorders
Julia M Sidorova, Raymond J Monnat
Published online: November 2010
Gap Junctions and Connexins: The Molecular Genetics of Deafness
Regina Nickel, Andrew Forge
Published online: October 2010
Pathogenetic Mechanisms in Alagille Syndrome
Shaunta Guha, Dermot Walls, Eileen M Redmond, Paul A Cahill
Published online: October 2010
Legius Syndrome and SPRED1
Hilde Brems, Thomy de Ravel, Eric Legius
Published online: October 2010
DNA Repair: Disorders
Alan R Lehmann, Mark O'Driscoll
Published online: October 2010
Epilepsy: Genetics
Kate V Everett
Published online: October 2010
Renal Carcinoma and von Hippel–Lindau Disease
Thomas M Connor, Patrick H Maxwell
Published online: October 2010
Immunodeficiency, Primary: Affecting the Adaptive Immune System
Mauno Vihinen
Published online: September 2010
Pulmonary Disorders: Hereditary
Stefan J Marciniak, David A Lomas
Published online: September 2010
Porphyrias: Genetics
George H Elder
Published online: September 2010
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