Specific Genetic Disorders

Pub Date A-Z
Molecular Genetics of Alkaptonuria
Andrea Zatkova
Published online: January 2013
Molecular Genetic Basis of Myotonic Dystrophy
Jan Radvanszky, Ludevit Kadasi
Published online: January 2013
Molecular Genetics of Choroideremia
Paul R Freund, Ian M MacDonald
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 Fanconi Anaemia
Allison M Green, Gary M Kupfer
Published online: December 2012
Molecular Genetics of Hypophosphatasia
Etienne Mornet
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 Genetics of Ehlers–Danlos Syndrome
Karin Mayer
Published online: November 2012
Molecular Genetics of Nail–Patella Syndrome
Iain McIntosh
Published online: November 2012
Molecular Genetics of Simpson‐Golabi‐Behmel Syndrome Type 1
Mahin Golabi, Alva Leung
Published online: November 2012
Molecular Genetics of Familial Cerebral Cavernous Malformations
Alexander Dru, Justin Eales, Nikolay L Martirosyan, Raza Mushtaq, Daniel D Cavalcanti, M Yashar S Kalani, Joseph M Zabramski, Robert F Spetzler, Mark C Preul
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
Molecular Genetics of Galactosaemia
Kent Lai, Anna Marabotti, Rong Mao
Published online: October 2012
Molecular Genetics of Cystinuria
Thomas Eggermann
Published online: October 2012
Plakin Proteins, Hemidesmosomes and Human Disease
Martyn Chidgey
Published online: October 2012
Genetics of SHOX Deficiency
Mariana FA Funari, Mirian Y Nishi, Renata C Scalco, Alexander AL Jorge
Published online: July 2012
Cellular Basis of Laminopathies
Kan Cao
Published online: July 2012
Molecular Genetics of Sarcoidosis
Manju Paul, Michael Iannuzzi
Published online: June 2012
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