Specific Genetic Disorders

Pub Date A-Z
Genetics of Pheochromocytoma
Victoria L Martucci, Karel Pacak
Published online: April 2014
Cystic Fibrosis: Gene Therapy
Stephanie G Sumner‐Jones, Deborah R Gill
Published online: April 2014
Lifestyle Responses to Genetic Susceptibility to Type 2 Diabetes
Katie Thirlaway, Lindsey Davies
Published online: April 2014
Molecular Genetics of Cohesinopathies
José L Barbero
Published online: March 2014
Molecular Genetics of Dystrophinopathies
Alessandra Ferlini, Marcella Neri
Published online: March 2014
Developmental Syndromes of Ras/MAPK Pathway Dysregulation
Alexsandra C Malaquias, Alexander AL Jorge
Published online: March 2014
Vitelline Macular Dystrophy
C George Priya Doss, Aditi S Kumar, Vaishnavi Narayan
Published online: February 2014
Molecular Genetics of the Neuronal Ceroid Lipofuscinoses
Sara E Mole
Published online: January 2014
Genetics of Idiopathic Scoliosis
Kristen F Gorman, Cedric Julien, Niaz Oliazadeh, Qilin Tang, Alain Moreau
Published online: January 2014
Molecular Genetics of Analbuminaemia
Lorenzo Minchiotti, Gianluca Caridi, Monica Campagnoli, Monica Galliano, Ulrich Kragh‐Hansen, Theodore Peters
Published online: January 2014
Molecular Genetics of Saethre–Chotzen Syndrome
Irene MJ Mathijssen
Published online: December 2013
CFTR: The CF Gene and Its Regulation in Physiology and Disease
Wayne IL Davies
Published online: December 2013
Molecular Genetics of Primary Ciliary Dyskinesia
Amjad Horani, Thomas W Ferkol
Published online: December 2013
Genotype–Phenotype Relationship in Hereditary Hemochromatosis
Lachlan RO Ayres, Vanoo Jayasekeran, John K Olynyk
Published online: December 2013
X Chromosome and Spermatogenesis Defects
Katrien Stouffs, Willy Lissens
Published online: November 2013
Meckel Syndrome and Related Disorders
Valeska Frank, Carsten Bergmann
Published online: November 2013
Molecular Genetics of LEOPARD Syndrome
Efrén Martínez‐Quintana, Fayna Rodríguez‐González
Published online: November 2013
Gene Therapy for Duchenne Muscular Dystrophy
Maaike van Putten, Annemieke Aartsma‐Rus
Published online: September 2013
Molecular Genetics of Skeletal Muscle Channelopathies
Siobhan CM Durran, Emma Matthews, Michael Hanna
Published online: September 2013
Molecular Genetics of Chediak–Higashi Syndrome
Jerry Kaplan, Diane M Ward
Published online: September 2013
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