Specific Genetic Disorders

Pub Date A-Z
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
Molecular Genetics of Metabolic Syndrome
Yi‐Cheng Chang, Yu‐Hsiang Yu, Lee‐Ming Chuang
Published online: February 2013
Genetics of Dyskeratosis Congenita
Philip J Mason, Dara Reeves, Nieves Perdigones
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 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 Choroideremia
Paul R Freund, Ian M MacDonald
Published online: December 2012
Molecular Genetics of Hypophosphatasia
Etienne Mornet
Published online: December 2012
Molecular Genetics of Fanconi Anaemia
Allison M Green, Gary M Kupfer
Published online: December 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
Molecular Genetics of Ehlers–Danlos Syndrome
Karin Mayer
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 Genetics of Simpson‐Golabi‐Behmel Syndrome Type 1
Mahin Golabi, Alva Leung
Published online: November 2012
Molecular Genetics of Myelodysplastic Syndromes
Rafael Bejar, David P Steensma
Published online: November 2012
Molecular Genetics of Nail–Patella Syndrome
Iain McIntosh
Published online: November 2012
Plakin Proteins, Hemidesmosomes and Human Disease
Martyn Chidgey
Published online: October 2012
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