Genetics & Disease

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392 matches found in topic Genetics & Disease
Listings: 1-25   26-50   51-75   76-100   more...

Genetics and Epigenetics of Hydatidiform Moles
Rima Slim, Yassemine Khawajkie, Kurosh Rahimi, Philippe Sauthier
Published online: January 2017
Genetics of Pituitary Adenoma
Hidenori Fukuoka
Published online: January 2017
Gene Discovery in Lethal Foetal Disorders
Isabel Filges
Published online: January 2017
Phenylketonuria (PKU)
Eugene Gonzalez‐Lopez, Ashley J McFalls, Kent E Vrana
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
Molecular Genetics of Craniosynostosis
Wanda Lattanzi
Published online: November 2016
Molecular Genetics of Dystonia
Katja Lohmann
Published online: November 2016
Role of ATRX Chromatin Remodelling Factor in α‐Thalassaemia X‐Linked Mental Retardation
Kevin G Young, David J Picketts
Published online: November 2016
Congenital Disorders of Glycosylation (CDG): Review
Peter Witters, Eva Morava
Published online: November 2016
Molecular Genetics of Myhre Syndrome
Caroline Michot, Carine Le Goff, Valérie Cormier‐Daire
Published online: November 2016
Genetics of Aortic Aneurysmal Disease
Bradley J Toghill, Athanasios Saratzis, Lakmini S Liyanage, David Sidloff, Matthew J Bown
Published online: November 2016
Molecular Genetics of Fibrodysplasia Ossificans Progressiva
Irina Hüning, Gabriele Gillessen‐Kaesbach
Published online: November 2016
Simple Repeats
Christian Schlötterer
Published online: September 2016
Factor V Leiden
Björn Dahlbäck
Published online: September 2016
Cystic Fibrosis: Modifier Genes
Aabida Saferali, Stuart E Turvey, Andrew J Sandford
Published online: September 2016
Chromothripsis and Human Genetic Disease
Lusine Nazaryan‐Petersen, Niels Tommerup
Published online: September 2016
Microsatellites
Sabine Hoffjan, Jörg T Epplen
Published online: August 2016
Diamond–Blackfan Anaemia: From Genotype to Phenotype
Nahuel A Paolini, Alyson W MacInnes, Marieke von Lindern
Published online: August 2016
Cis‐Regulatory Mutations in Human Disease
Adam Douglas, Silvia Peluso, Laura A Lettice, Robert E Hill
Published online: August 2016
Gene and Cell Therapy for Inherited Retinal Dystrophies
Marcela Garita‐Hernandez, Olivier Goureau, Deniz Dalkara
Published online: August 2016
Assessment of Disease‐Associated Sequence Variants and Considerations for Functional Validation using Mouse Models
Timothy C Cox, Liza L Cox
Published online: August 2016
Molecular Genetics of Pancreatic Endocrine Tumours
Venkata S Katabathina, Robert (Dan) Wilcoxson, Srinivasa R Prasad
Published online: May 2016
Role of Plakins in Human Genetic Disease
Bertrand Favre, Luca Borradori
Published online: May 2016
Thymidylate Synthesis
Martha S Field, Patrick J Stover, Roy Kisliuk
Published online: April 2016
Genetics of Human Zinc Deficiencies
Christer Hogstrand, Wolfgang Maret
Published online: April 2016
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