Genetics & Disease

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392 matches found in topic Genetics & Disease
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Non‐B DNA Structure and Mutations Causing Human Genetic Disease
Albino Bacolla, David N Cooper, Karen M Vasquez
Published online: October 2010
22q11 Deletion Syndrome: A Role for Tbx1 in Pharynx and Cardiovascular Development
Amelie Calmont, Peter Scambler
Published online: September 2010
Nonsense Mutations Causing Inherited Diseases: Therapeutic Approaches
Laure Bidou, Valérie Allamand
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
Lipoproteins: Genetic Disorders
Anne K Soutar
Published online: September 2009
Biallelic Germline Mutations of Mismatch‐Repair Genes and Paediatric Malignancies
Katharina Wimmer, Julia Etzler
Published online: September 2009
Genetic Variation: Human
Edward J Hollox
Published online: March 2009
The Aetiologic Spectrum of Cerebellar Ataxia: Inherited Causes of Ataxia
Peter K Todd, J Paul Taylor
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
Cytotoxicity of Aberrant Proteins
Aarthi Ashok, Ramanujan S Hegde
Published online: December 2008
Deafness: Hereditary
Jean‐Pierre Hardelin, Jacqueline Levilliers, Christine Petit
Published online: July 2008
Systemic Lupus Erythematosus: Genetic and Epigenetic View
Swapan K Nath, Amr H Sawalha
Published online: July 2008
Human Chromosome Evolution
Gerald P Holmquist, Johannes Wienberg
Published online: March 2008
Thrifty Genotype Hypothesis and Complex Genetic Disease
Pnina Vardi, Konstantin Bloch
Published online: March 2008
Single Nucleotide Polymorphism (SNP)
Anthony J Brookes
Published online: December 2007
Trinucleotide Repeat Expansions: Mechanisms and Disease Associations
Jörg T Epplen, Stefan Wieczorek
Published online: September 2007
Facioscapulohumeral Muscular Dystrophy: Genetics
Meena Upadhyaya
Published online: September 2007
Telomeres and Telomerase in Ageing and Cancer
Michel M Ouellette, Kyung Hyun Choi
Published online: September 2007
Identification of Disease Genes by CGH Microarrays
Joris A Veltman, Terry Vrijenhoek
Published online: July 2007
Relevance of Copy Number Variation to Human Genetic Disease
Hildegard Kehrer‐Sawatzki
Published online: April 2007
RNA Processing and Human Disorders
Fabrice Lejeune, Lynne E Maquat
Published online: January 2007
Genotype‐Phenotype Relationships
Stanislas Lyonnet, Josué Feingold, Jean Frézal
Published online: September 2006
Transcriptional Channelopathies of the Nervous System
Stephen G Waxman
Published online: September 2006
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