Genetics & Disease

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

Inherited Neuromuscular Disease
Elizabeth A Kichula, Toby A Ferguson, David R Lynch
Published online: January 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
Genetics of Human Laminopathies
Giuseppe Novelli, Maria Rosaria D'Apice
Published online: January 2017
Genetics and Epigenetics of Hydatidiform Moles
Rima Slim, Yassemine Khawajkie, Kurosh Rahimi, Philippe Sauthier
Published online: January 2017
Immunodeficiency: Severe Combined Immunodeficiency Disease
Ivan K Chinn, William T Shearer
Published online: November 2016
Phenylketonuria (PKU)
Eugene Gonzalez‐Lopez, Ashley J McFalls, Kent E Vrana
Published online: November 2016
Preimplantation Diagnosis
Anver Kuliev, Svetlana Rechitsky
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
Molecular Genetics of Fibrodysplasia Ossificans Progressiva
Irina Hüning, Gabriele Gillessen‐Kaesbach
Published online: November 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
Diamond–Blackfan Anaemia: From Genotype to Phenotype
Nahuel A Paolini, Alyson W MacInnes, Marieke von Lindern
Published online: August 2016
Gene and Cell Therapy for Inherited Retinal Dystrophies
Marcela Garita‐Hernandez, Olivier Goureau, Deniz Dalkara
Published online: August 2016
Molecular Genetics of Ankylosing Spondylitis
Judith A Smith
Published online: June 2016
Gene Therapy for Haemoglobinopathies
Michael A Goodman, Punam Malik
Published online: May 2016
Epigenetic Mechanisms in Lynch Syndrome
Taina T Nieminen, Anni Niskakoski, Päivi Peltomäki
Published online: April 2016
Molecular Genetics of Cherubism
Ernst J Reichenberger, Yasuyoshi Ueki
Published online: March 2016
Molecular Genetics of the Fibrillinopathies
Mélodie Aubart, Louise Benarroch, Pauline Arnaud, Gwenaëlle Collod‐Béroud, Guillaume Jondeau, Catherine Boileau
Published online: March 2016
Genetics of Polycystic Ovary Syndrome
Thomas M Barber, Franks Stephen
Published online: March 2016
Monogenic Autoinflammatory Diseases
James Verbsky, Joel Gallagher
Published online: February 2016
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