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Human Molecular Genetics|March 17, 2012
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in humanNathalie Roux-Buisson, Marine Cacheux, Anne Fourest-Lieuvin, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contracturesJulien Thevenon, Nicole Monnier, Patrick Callier, et al.
Human Mutation|April 16, 2009
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebaseSylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, et al.
Brain : a Journal of Neurology|February 5, 2013
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivityNancy Mokbel, Biljana Ilkovski, Michaela Kreissl, et al.
Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.
The Journal of Allergy and Clinical Immunology|September 10, 2004
Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyondAngelo Agostoni, Emel Aygören-Pürsün, Karen E Binkley, et al.
Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.
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