Specific Genetic Disorders

Pub Date A-Z
Thalassaemias
Deborah Hay, David J Weatherall
Published online:
Albinism: Genetics
William S Oetting, David Adams
Published online: November 2018
Molecular Genetics of Frontonasal Dysplasia
Lehalle Daphné, Faivre Laurence
Published online: November 2018
Molecular Genetics of Birt–Hogg–Dubé Syndrome
Laura S Schmidt
Published online: November 2018
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
Molecular Genetics of Hereditary Spastic Paraplegias
Maxime Boutry, Giovanni Stevanin
Published online: August 2018
Cystic Fibrosis Gene: Identification
Johanna M Rommens
Published online: August 2018
Androgen Insensitivity
Iain J McEwan
Published online: July 2018
Disorders with Synuclein Pathology and Parkinsonism
Laura L Kilarski, Wei Zhang, Huw R Morris
Published online: June 2018
Genetics of the Retinal Dystrophies
Solomon S Merepa, Suzanne Broadgate, Sumathi Sekaran, Stephanie Halford
Published online: June 2018
Genetics of Autoinflammatory Diseases
Davide Martorana, Francesco Bonatti, Alessia Adorni, Paola Mozzoni, Vera Uliana, Antonio Percesepe
Published online: June 2018
Molecular Genetics of Essential Tremor
Gabrielle Houle, Patrick A Dion, Guy A Rouleau
Published online: June 2018
Genetics of Primary Ovarian Insufficiency
Xue Jiao, Zi‐Jiang Chen
Published online: May 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
Molecular Genetics of Vascular Malformations
Angela Queisser, Laurence M Boon, Miikka Vikkula
Published online: March 2018
Listings: 1-20   21-40   41-60   61-80   more...