Genomic Disorders

Pub Date A-Z
The Molecular Genetics of Trisomy 18: Phenotype–Genotype Correlations
Angela Peron, John C Carey
Published online: November 2014
Molecular Mechanisms Underlying Pathogenic Missense Mutations
Bohua Wu, Julia Eggert, Emil Alexov
Published online: August 2014
Human Embryonic Aneuploidy
Elpida Fragouli, Dagan Wells
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
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
Causes and Consequences of Structural Genomic Alterations in the Human Genome
Lesley Hart, Mark O'Driscoll
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
Molecular Genetics of Incontinentia Pigmenti
Matilde Valeria Ursini, Matilde Immacolata Conte, Alessandra Pescatore, Maria Giuseppina Miano, Francesca Fusco
Published online: October 2012
XYY Syndrome
Sharan Goobie, Chitra Prasad
Published online: July 2012
Somatic Genome Variations
Ivan Y Iourov, Svetlana G Vorsanova, Yuri B Yurov
Published online: June 2012
Genetics of Silver–Russell Syndrome
Thomas Eggermann
Published online: February 2012
Molecular Genetics of Rhabdomyosarcoma
Soledad Gallego, Jose Sanchez De Toledo, Josep Roma
Published online: February 2012
Molecular Genetics of Williams–Beuren Syndrome
Giuseppe Merla, Lucia Micale, Carmela Fusco, Maria Nicla Loviglio
Published online: January 2012
Genomic Imprinting at the Transcriptional Level
Simão Teixeira da Rocha, Edith Heard
Published online: November 2011
Genetic Imprinting in the Prader–Willi and Angelman Syndromes
Fiorella Gurrieri, Eugenio Sangiorgi
Published online: November 2011
Comparative Genomic Hybridization in the Study of Human Disease
Sau Wai Cheung, Amber Nolen Pursley
Published online: November 2011
Down Syndrome
David Patterson, Ira T Lott
Published online: October 2011
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