Genetics & Disease

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228 matches found in topic Genetics & Disease
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The Molecular Genetics of Trisomy 18: Phenotype–Genotype Correlations
Angela Peron, John C Carey
Published online: November 2014
DNA Replication Origins
Marta Rodríguez‐Martínez, Marcel Méchali
Published online: August 2014
Upstream Open Reading Frames and Human Genetic Disease
Cristina Barbosa, Cláudia Onofre, Luísa Romão
Published online: August 2014
Genes: Definition and Structure
Millard Susman
Published online: July 2014
Development and Role of the Human Reference Sequence in Personal Genomics
Todd M Smith, Sandra G Porter
Published online: June 2014
Clinical and Phenotypic Relevance of cis‐Acting Regulatory Polymorphisms
Anke Liebert, Bryony L Jones, Dallas M Swallow
Published online: May 2014
Gene Targeting by Homologous Recombination
Wade A Reh, Karen M Vasquez
Published online: April 2014
Promoter Fusions to Study Gene Expression
Jun Ma
Published online: February 2014
Clustered Mutations in Human Cancer
Steven A Roberts, Dmitry A Gordenin
Published online: January 2014
Mitochondrial DNA: Fate of the Paternal Mitochondrial Genome
Justin C St. John
Published online: December 2013
Synonymous Mutations as a Cause of Human Genetic Disease
Zuben E Sauna, Chava Kimchi‐Sarfaty
Published online: December 2013
Nonsense Mutations and Suppression
Muriel B Herrington
Published online: October 2013
Causes and Consequences of Structural Genomic Alterations in the Human Genome
Lesley Hart, Mark O'Driscoll
Published online: September 2013
Relevance of Pseudogenes to Human Genetic Disease
Kamalika Sen
Published online: September 2013
Germline Genomic Copy Number Variation Contribution to Cancer Predisposition
Amanda Gonçalves Silva, Tatiane Cristina Rodrigues, Peter Lees Pearson, Carla Rosenberg, Ana Cristina Victorino Krepischi
Published online: September 2013
Molecular Genetic Causes of Discordance in Monozygotic Twins
Witold Czyz, Sreeram V Ramagopalan
Published online: September 2013
Locus Control Regions (LCRs)
Michael Bulger, Mark Groudine
Published online: June 2013
Yeast (YAC) and Human (HAC) Artificial Chromosome Clones
Ramaiah Nagaraja, Natalay Kouprina, Vladimir Larionov, David Schlessinger
Published online: May 2013
Human Intronless Genes and their Associated Diseases
Ewa A Grzybowska
Published online: May 2013
RNA Therapy for Polyglutamine Neurodegenerative Diseases
Danielle C Smith, Lauren M Watson, Jacquie LJ Greenberg, Matthew JA Wood, Janine Scholefield
Published online: April 2013
Genome, Proteome and the Quest for a Full Structure–Function Description of an Organism
Adam Godzik, Ian A Wilson
Published online: March 2013
Isochores
Giorgio Bernardi
Published online: November 2012
Tumour Formation: Number of Mutations Required
Lindsay D Butcher, C Richard Boland
Published online: October 2012
Technological Advances in the Detection of Novel Fusion Genes
Pay Chin Leow, Chee‐Seng Ku, Ross Soo, Richie Soong
Published online: September 2012
Application of Chromosome Conformation Capture (3C) to the Study of Human Genetic Disease
Martin P Horan, J William O Ballard
Published online: September 2012
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