Genetics & Disease

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377 matches found in topic Genetics & Disease
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Molecular Genetics of Hypobetalipoproteinaemia and Abetalipoproteinaemia
Amanda J Hooper, John R Burnett
Published online: September 2013
Gene Therapy for Amyotrophic Lateral Sclerosis
Zachary McEachin, Deirdre O'Connor, Nicholas Boulis
Published online: September 2013
Molecular Genetics of Barth Syndrome
Atsuhito Takeda
Published online: September 2013
Gene Therapy for Duchenne Muscular Dystrophy
Maaike van Putten, Annemieke Aartsma‐Rus
Published online: September 2013
Molecular Genetics of Achondroplasia
Jyoti Narayana, William A Horton
Published online: June 2013
Genetics of Familial Amyloid Neuropathies
Gérard Said, Violaine Planté‐Bordeneuve
Published online: June 2013
Genetics of Lipodystrophies
Corinne Vigouroux, Guillaume Bidault, Jacqueline Capeau
Published online: June 2013
Molecular Genetics of Wilson Disease
Eve A Roberts
Published online: April 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
Genetics of Diseases of the Nuclear Envelope
Antoine Muchir
Published online: March 2013
Brugada Syndrome
Oscar Campuzano, Georgia Sarquella‐Brugada, Ramon Brugada, Josep Brugada, Pedro Brugada
Published online: February 2013
Genetics of the Ribosomopathies
Johnson M Liu, Jeffrey M Lipton, Steven R Ellis
Published online: February 2013
The Transcription/DNA Repair Factor TFIIH
Laura Radu, Anne Maglott‐Roth, Arnaud Poterszman
Published online: February 2013
Genetics of Dyskeratosis Congenita
Philip J Mason, Dara Reeves, Nieves Perdigones
Published online: February 2013
Molecular Genetics of Metabolic Syndrome
Yi‐Cheng Chang, Yu‐Hsiang Yu, Lee‐Ming Chuang
Published online: February 2013
Molecular Genetic Basis of Myotonic Dystrophy
Jan Radvanszky, Ludevit Kadasi
Published online: January 2013
Molecular Genetics of Alkaptonuria
Andrea Zatkova
Published online: January 2013
Molecular Genetics of Hypophosphatasia
Etienne Mornet
Published online: December 2012
Molecular Genetics of Choroideremia
Paul R Freund, Ian M MacDonald
Published online: December 2012
Molecular Genetics of Fanconi Anaemia
Allison M Green, Gary M Kupfer
Published online: December 2012
Molecular Genetics of Nemaline Myopathy
Sarah A Sandaradura, Kathryn N North
Published online: December 2012
LiNC Complex and Human Genetic Muscular Disease
Manfred S Wehnert, Peter Meinke
Published online: December 2012
Molecular Genetics of Myelodysplastic Syndromes
Rafael Bejar, David P Steensma
Published online: November 2012
Molecular Genetics of CHARGE Syndrome
Conny M A van Ravenswaaij‐Arts, Lies H Hoefsloot
Published online: November 2012
Molecular Biology of Small Heat Shock Proteins associated with Peripheral Neuropathies
Anne Holmgren, Delphine Bouhy, Vincent Timmerman
Published online: November 2012
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