Specific Genetic Disorders

Pub Date A-Z
CFTR: The CF Gene and Its Regulation in Physiology and Disease
Wayne IL Davies
Published online: December 2013
Genotype–Phenotype Relationship in Hereditary Hemochromatosis
Lachlan RO Ayres, Vanoo Jayasekeran, John K Olynyk
Published online: December 2013
Molecular Genetics of Primary Ciliary Dyskinesia
Amjad Horani, Thomas W Ferkol
Published online: December 2013
Molecular Genetics of Saethre–Chotzen Syndrome
Irene MJ Mathijssen
Published online: December 2013
Molecular Genetics of LEOPARD Syndrome
Efrén Martínez‐Quintana, Fayna Rodríguez‐González
Published online: November 2013
Meckel Syndrome and Related Disorders
Valeska Frank, Carsten Bergmann
Published online: November 2013
X Chromosome and Spermatogenesis Defects
Katrien Stouffs, Willy Lissens
Published online: November 2013
Molecular Genetics of Chediak–Higashi Syndrome
Jerry Kaplan, Diane M Ward
Published online: September 2013
Gene Therapy for Amyotrophic Lateral Sclerosis
Zachary McEachin, Deirdre O'Connor, Nicholas Boulis
Published online: September 2013
Molecular Genetics of Nasopharyngeal Carcinoma
Samantha Wei‐Man Lun, Chartia Ching‐Mei Cheung, Chit Chow, Grace Tin‐Yun Chung, Kwok‐Wai Lo
Published online: September 2013
Genetics of Phosphate Regulation Disorders
Jyothsna Gattineni
Published online: September 2013
Molecular Genetics of Aniridia
Melanie Hingorani
Published online: September 2013
Molecular Genetics of Barth Syndrome
Atsuhito Takeda
Published online: September 2013
Molecular Genetics of Hypobetalipoproteinaemia and Abetalipoproteinaemia
Amanda J Hooper, John R Burnett
Published online: September 2013
Molecular Genetics of Skeletal Muscle Channelopathies
Siobhan CM Durran, Emma Matthews, Michael Hanna
Published online: September 2013
Gene Therapy for Duchenne Muscular Dystrophy
Maaike van Putten, Annemieke Aartsma‐Rus
Published online: September 2013
Genetics of Familial Amyloid Neuropathies
Gérard Said, Violaine Planté‐Bordeneuve
Published online: June 2013
Molecular Genetics of Achondroplasia
Jyoti Narayana, William A Horton
Published online: June 2013
Genetics of Lipodystrophies
Corinne Vigouroux, Guillaume Bidault, Jacqueline Capeau
Published online: June 2013
RNA Therapy for Polyglutamine Neurodegenerative Diseases
Danielle C Smith, Lauren M Watson, Jacquie LJ Greenberg, Matthew JA Wood, Janine Scholefield
Published online: April 2013
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