Genetics & Disease

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

Pathogenesis of Polyglutamine Diseases
Kentaro Sahashi, Masahisa Katsuno
Published online: October 2018
Molecular Genetics of the α‐Thalassaemias
Patricia Aguilar‐Martinez, Béatrice Gulbis
Published online: October 2018
Facioscapulohumeral Muscular Dystrophy: Genetics
Frédérique Magdinier, Meena Upadhyaya
Published online: September 2018
Genetics of Thyroid Hormone‐Binding Proteins
Alfonso Massimiliano Ferrara
Published online: September 2018
De Novo Mutations in Human Inherited Disease
Sofia Oliveira, David N Cooper, Luisa Azevedo
Published online: September 2018
Cystic Fibrosis Gene: Identification
Johanna M Rommens
Published online: August 2018
Molecular Genetics of Hereditary Spastic Paraplegias
Maxime Boutry, Giovanni Stevanin
Published online: August 2018
Androgen Insensitivity
Iain J McEwan
Published online: July 2018
Glycosylation and Disease
Miriam Dwek, Anatoliy Markiv
Published online: June 2018
Disorders with Synuclein Pathology and Parkinsonism
Laura L Kilarski, Wei Zhang, Huw R Morris
Published online: June 2018
Deconstructing Gene Function through ENU Mutagenesis
Paul K Potter
Published online: June 2018
Molecular Genetics of Essential Tremor
Gabrielle Houle, Patrick A Dion, Guy A Rouleau
Published online: June 2018
Genetics of Autoinflammatory Diseases
Davide Martorana, Francesco Bonatti, Alessia Adorni, Paola Mozzoni, Vera Uliana, Antonio Percesepe
Published online: June 2018
Genetics of the Retinal Dystrophies
Solomon S Merepa, Suzanne Broadgate, Sumathi Sekaran, Stephanie Halford
Published online: June 2018
Cystathionine β‐Synthase (CBS) Deficiency: Genetics
Viktor Kožich, Jan P Kraus, Tomas Majtan
Published online: May 2018
Multiple Endocrine Neoplasia Type 2
Friedhelm Raue, Karin Frank‐Raue
Published online: May 2018
Haemostasis: General Pathways
Alessandra Balduini, Cesare Balduini
Published online: April 2018
Dominance and Recessivity
Andrew OM Wilkie
Published online: April 2018
Nonsense Mutations Causing Inherited Diseases: Therapeutic Approaches
Laure Bidou, Valérie Allamand
Published online: April 2018
Heat Shock Protein 47 (HSP47)
Fatin Hazwani Ibrahim, Normala Abd Latip, Mohd Firdaus Abdul‐Wahab
Published online: April 2018
Blood Groups: Molecular Genetic Basis
Neil D Avent
Published online: March 2018
Molecular Genetics of Vascular Malformations
Angela Queisser, Laurence M Boon, Miikka Vikkula
Published online: March 2018
Cornification Diseases (Skin Cell Death)
Eleonora Candi, William Henry Irwin McLean, Biagio Didona, Alessandro Terrinoni, Artem Smirnov, Gerry Melino
Published online: March 2018
Molecular Genetics of Basal Cell Naevus Syndrome
Ann M John, Robert A Schwartz
Published online: March 2018
Nonsense Mutations and Suppression
Muriel B Herrington
Published online: February 2018
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