Specific Genetic Disorders

Pub Date A-Z
Thalassaemias
Deborah Hay, David J Weatherall
Published online:
Molecular Genetics of Sorsby Fundus Dystrophy
Engin Akyol, Andrew Lotery
Published online: July 2019
Adenosine Deaminase Deficiency: From the Discovery of Its Molecular Pathogenesis to Targeted Therapy
Federico A Moretti, Frank JT Staal
Published online: July 2019
Adaptive Evolution of Microcephaly Genes
Stephen H Montgomery
Published online: May 2019
Human Induced Pluripotent Stem Cells: Challenges and Opportunities in Developing New Therapies for Muscular Dystrophies
Amaia Paredes‐Redondo, Yung‐Yao Lin
Published online: March 2019
Genetics of Vitiligo
Genevieve HL Roberts, Richard A Spritz
Published online: December 2018
Genetics of the Pathophysiology of Retinoblastoma
Dietmar R Lohmann, Brenda L Gallie
Published online: December 2018
Molecular Genetics of Birt–Hogg–Dubé Syndrome
Laura S Schmidt
Published online: November 2018
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 the α‐Thalassaemias
Patricia Aguilar‐Martinez, Béatrice Gulbis
Published online: October 2018
Pathogenesis of Polyglutamine Diseases
Kentaro Sahashi, Masahisa Katsuno
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
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
Genetics of the Retinal Dystrophies
Solomon S Merepa, Suzanne Broadgate, Sumathi Sekaran, Stephanie Halford
Published online: June 2018
Disorders with Synuclein Pathology and Parkinsonism
Laura L Kilarski, Wei Zhang, Huw R Morris
Published online: June 2018
Genetics of Autoinflammatory Diseases
Davide Martorana, Francesco Bonatti, Alessia Adorni, Paola Mozzoni, Vera Uliana, Antonio Percesepe
Published online: June 2018
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