Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.

by Charles Coutton, Farid Abada, Thomas Karaouzene, Damien Sanlaville, Véronique Satre, Joël Lunardi, Pierre-Simon Jouk, Christophe Arnoult, Nicolas Thierry-Mieg, Pierre F Ray
Published 2013-03-01

An integrated diagnosis strategy for congenital myopathies.

by Johann Böhm, Nasim Vasli, Edoardo Malfatti, Stéphanie Le Gras, Claire Feger, Bernard Jost, Nicole Monnier, Julie Brocard, Hatice Karasoy, Marion Gérard, Maggie C Walter, Peter Reilich, Valérie Biancalana, Christine Kretz, Nadia Messaddeq, Isabelle Marty, Joël Lunardi, Norma B Romero, Jocelyn Laporte
Published 2013-01-01