Mutational Mechanisms of Genetic Disease

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Pub Date A-Z
Genetics of Diseases of the Nuclear Envelope
Antoine Muchir
Published online: March 2013
Molecular Genetics of MUTYH‐Associated Polyposis
Maartje Nielsen, Stefan Aretz, Julian R Sampson
Published online: March 2013
Dental Anomalies: Genetics
Pekka Nieminen
Published online: March 2013
Genetics of Carney Complex
Anelia Horvath, Constantine A Stratakis
Published online: March 2013
Brugada Syndrome
Oscar Campuzano, Georgia Sarquella‐Brugada, Ramon Brugada, Josep Brugada, Pedro Brugada
Published online: February 2013
Molecular Genetics of Hermansky–Pudlak Syndrome
Andrew R Cullinane, Marjan Huizing, William A Gahl
Published online: February 2013
Genetics of Dyskeratosis Congenita
Philip J Mason, Dara Reeves, Nieves Perdigones
Published online: February 2013
The Transcription/DNA Repair Factor TFIIH
Laura Radu, Anne Maglott‐Roth, Arnaud Poterszman
Published online: February 2013
Genetics of the Ribosomopathies
Johnson M Liu, Jeffrey M Lipton, Steven R Ellis
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 Fanconi Anaemia
Allison M Green, Gary M Kupfer
Published online: December 2012
Molecular Genetics of Hypophosphatasia
Etienne Mornet
Published online: December 2012
LiNC Complex and Human Genetic Muscular Disease
Manfred S Wehnert, Peter Meinke
Published online: December 2012
Somatic Mutations in Polycythaemia Vera and Other Philadelphia Chromosome Negative Myeloproliferative Neoplasms
Lukasz P Gondek, Jerry L Spivak
Published online: December 2012
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
GLI Proteins in Human Genetic Disease
Zhulyn Olena, Hui Chi‐chung
Published online: December 2012
Molecular Genetics of CHARGE Syndrome
Conny M A van Ravenswaaij‐Arts, Lies H Hoefsloot
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
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