Specific Genetic Disorders

Pub Date A-Z
DNA Strand Break Repair and Human Genetic Disease
Tatiana García‐Muse, Andrés Aguilera
Published online: January 2011
Tay–Sachs Disease
Michael Tropak, Don J Mahuran
Published online: December 2010
Pancreatic Cancer: Molecular Genetics and Clinical Applications
George H Sakorafas, Irene Pappa, Vasileios Smyrniotis
Published online: December 2010
Cystathionine β‐synthase (CBS) Deficiency: Genetics
Viktor Kožich, Warren D Kruger, Jan Peter Kraus
Published online: December 2010
Desminopathy
Lev G Goldfarb, Montse Olivé, Patrick Vicart, Hans H Goebel
Published online: December 2010
Androgen Insensitivity
Albert O Brinkmann
Published online: November 2010
DNA Helicase‐deficiency Disorders
Julia M Sidorova, Raymond J Monnat
Published online: November 2010
Genetics of X‐linked Mental Retardation
Małgorzata Zofia Lisik
Published online: November 2010
Multiple Endocrine Neoplasia Type 2
Friedhelm Raue, Karin Frank‐Raue
Published online: November 2010
DNA Repair: Disorders
Alan R Lehmann, Mark O'Driscoll
Published online: October 2010
Epilepsy: Genetics
Kate V Everett
Published online: October 2010
Legius Syndrome and SPRED1
Hilde Brems, Thomy de Ravel, Eric Legius
Published online: October 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
Renal Carcinoma and von Hippel–Lindau Disease
Thomas M Connor, Patrick H Maxwell
Published online: October 2010
Pulmonary Disorders: Hereditary
Stefan J Marciniak, David A Lomas
Published online: September 2010
Sickle Cell Disease as a Multifactorial Condition
Madeleine M Verhovsek, Martin H Steinberg
Published online: September 2010
Glucose‐6‐phosphate Dehydrogenase (G6PD) Deficiency: Genetics
Philip J Mason, Thomas J Vulliamy
Published online: September 2010
Autosomal Dominant Polycystic Kidney Disease
M Amin Arnaout
Published online: September 2010
Porphyrias: Genetics
George H Elder
Published online: September 2010
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