Mutational Mechanisms of Genetic Disease

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Pub Date A-Z
Pancreatic Cancer: Molecular Genetics and Clinical Applications
George H Sakorafas, Irene Pappa, Vasileios Smyrniotis
Published online: December 2010
DNA Helicase‐deficiency Disorders
Julia M Sidorova, Raymond J Monnat
Published online: November 2010
Multiple Endocrine Neoplasia Type 2
Friedhelm Raue, Karin Frank‐Raue
Published online: November 2010
Genetics of X‐linked Mental Retardation
Małgorzata Zofia Lisik
Published online: November 2010
Androgen Insensitivity
Albert O Brinkmann
Published online: November 2010
Non‐B DNA Structure and Mutations Causing Human Genetic Disease
Albino Bacolla, David N Cooper, Karen M Vasquez
Published online: October 2010
DNA Repair: Disorders
Alan R Lehmann, Mark O'Driscoll
Published online: October 2010
Pathogenetic Mechanisms in Alagille Syndrome
Shaunta Guha, Dermot Walls, Eileen M Redmond, Paul A Cahill
Published online: October 2010
Neurofibromatosis Type 2 Clinics and Genetics
Lan Kluwe, Victor‐F Mautner
Published online: September 2010
Pulmonary Disorders: Hereditary
Stefan J Marciniak, David A Lomas
Published online: September 2010
Pathological Mutations in 5′ Untranslated Regions of Human Genes
Sangeeta Chatterjee, Sunil Kumar Berwal, Jayanta K Pal
Published online: September 2010
Nonsense Mutations Causing Inherited Diseases: Therapeutic Approaches
Laure Bidou, Valérie Allamand
Published online: September 2010
22q11 Deletion Syndrome: A Role for Tbx1 in Pharynx and Cardiovascular Development
Amelie Calmont, Peter Scambler
Published online: September 2010
Genetic Susceptibility to Autoimmune Disorders
Bernard R Lauwerys
Published online: June 2010
Deconstructing Gene Function through ENU Mutagenesis
Abraham Acevedo‐Arozena, Thomas Ricketts, Silvia Corrochano
Published online: April 2010
Thalassaemias
David J Weatherall
Published online: April 2010
Pathological Variations in 3′‐untranslated Regions of Human Genes
Jayanta K Pal, Sangeeta Chatterjee, Sunil Kumar Berwal
Published online: March 2010
Vitamin B12: Disorders of Absorption and Metabolism
David Watkins, David S Rosenblatt
Published online: February 2010
Biallelic Germline Mutations of Mismatch‐Repair Genes and Paediatric Malignancies
Katharina Wimmer, Julia Etzler
Published online: September 2009
Lipoproteins: Genetic Disorders
Anne K Soutar
Published online: September 2009
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