Genomic Disorders

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Pub Date A-Z
Chromosomal Numerical Aberrations
Zuzana Storchova
Published online: November 2016
Studying Genomic and Epigenetic Aberrations by Microarray Profiling
Logan C Walker, Katia Nones, Ann‐Marie Patch, Nicola Waddell
Published online: November 2016
Chromothripsis and Human Genetic Disease
Lusine Nazaryan‐Petersen, Niels Tommerup
Published online: September 2016
Cis‐Regulatory Mutations in Human Disease
Adam Douglas, Silvia Peluso, Laura A Lettice, Robert E Hill
Published online: August 2016
Role of Endogenous Retroviruses in Human Genetic Diseases
Audrey T Lin, Gkikas Magiorkinis
Published online: July 2016
Mechanisms of RNA‐Induced Toxicity in Diseases Characterised by CAG Repeat Expansions
Judith Schilling, Nadine Griesche, Sybille Krauß
Published online: January 2016
Chromosomal Instability (CIN) in Cancer
Steven D Horne, Christine J Ye, Henry HQ Heng
Published online: November 2015
Pathogenic Mechanisms and Clinical Consequences of Chromosomal Aberrations in Man
Martin Poot, Ron Hochstenbach
Published online: October 2015
Mitosis: Chromosome Segregation and Stability
Hatim M Mustaly, Neil J Ganem
Published online: March 2015
Segmental Duplications: A Source of Diversity, Evolution and Disease
Claudia R Catacchio, Giorgia Chiatante, Fabio Anaclerio, Mario Ventura
Published online: January 2015
The Molecular Genetics of Trisomy 18: Phenotype–Genotype Correlations
Angela Peron, John C Carey
Published online: November 2014
Human Embryonic Aneuploidy
Elpida Fragouli, Dagan Wells
Published online: August 2014
Molecular Mechanisms Underlying Pathogenic Missense Mutations
Bohua Wu, Julia Eggert, Emil Alexov
Published online: August 2014
Copy Number Variations and Neuropsychiatric Diseases
Ney Alliey‐Rodriguez, Elliot S Gershon
Published online: July 2014
Molecular Genetic Causes of Discordance in Monozygotic Twins
Witold Czyz, Sreeram V Ramagopalan
Published online: September 2013
Causes and Consequences of Structural Genomic Alterations in the Human Genome
Lesley Hart, Mark O'Driscoll
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
Tandem Repeat Instability and Genome Evolution
R Matthew Ward, David Mittelman
Published online: February 2013
Genetics of Chromosome 22q11.2 Deletion Syndrome
Luis Fernández
Published online: January 2013
Molecular Genetics of Myelodysplastic Syndromes
Rafael Bejar, David P Steensma
Published online: November 2012
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