Genetics & Disease

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231 matches found in topic Genetics & Disease
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Titin Gene (TTN): Description of the Gene Coding for Titin, a Giant Protein of Critical Importance for Myofibrillar Integrity and Elasticity in Vertebrate Striated Muscle
Siegfried Labeit, Dittmar Labeit, Henk Granzier
Published online: February 2018
Complex Multifactorial Genetic Diseases
Daniel J Howrigan, Nancy William, Todd M Darlington
Published online: January 2018
Chromosomes 21 and 22: Gene Density
Salvatore Saccone, Giorgio Bernardi
Published online: January 2018
Restriction Mapping
Burkhard Tümmler, Frauke Stanke
Published online: January 2018
Cytochrome P450 (CYP) Gene Superfamily
David R Nelson, Daniel W Nebert
Published online: January 2018
Non‐B DNA Structure and Mutations Causing Human Genetic Disease
Albino Bacolla, David N Cooper, Karen M Vasquez, John A Tainer
Published online: January 2018
Genetic Disorders of Human Infertility
Peter H Vogt
Published online: December 2017
Mobile Elements in the Human Genome: Implications for Disease
Benoît Chénais
Published online: December 2017
Dominant Traits and Diseases
Lynn B Jorde
Published online: November 2017
The Fragile X Syndrome
Edouard W Khandjian, Claude Robert, Olfa Khalfallah, Laetitia Davidovic
Published online: October 2017
Segmental Duplications and Genetic Disease
Feyza Yilmaz, Tamim H Shaikh, Beverly S Emanuel
Published online: October 2017
Pathological Mutations in 5′ Untranslated Regions of Human Genes
Sangeeta Chatterjee, Shilpa J Rao, Jayanta K Pal
Published online: October 2017
Repetitive Elements and Human Disorders
Tiffany K Kaul, Maria E Morales, Prescott L Deininger
Published online: September 2017
Male Sex Determination: Genetics
Harry Ostrer
Published online: September 2017
DNA Methylation and Mutation
Gerd P Pfeifer
Published online: June 2017
Chromosome 10
Theologia Sarafidou, Nicholas Moschonas
Published online: March 2017
Chromosome 15
Chantal Farra, Cynthia C Morton
Published online: March 2017
Chromosome 8
Matthew J Hilton, Dan E Wells
Published online: January 2017
Sex Chromosome Abnormalities
Kara B Pappas, Claude J Migeon
Published online: January 2017
Alternative Splicing and Human Disease
Stefan Stamm
Published online: January 2017
Sequencing the Human Genome: Novel Insights into Its Structure and Function
Hildegard Kehrer‐Sawatzki, David N Cooper
Published online: November 2016
Pathological Variations in 3′‐Untranslated Regions of Human Genes
Jayanta K Pal, Sangeeta Chatterjee, Shilpa J Rao
Published online: November 2016
Simple Repeats
Christian Schlötterer
Published online: September 2016
Microsatellites
Sabine Hoffjan, Jörg T Epplen
Published online: August 2016
Digital Image Analysis
Olivier Burri, Romain Guiet, Arne Seitz
Published online: May 2016
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