Paul Thiry

De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy

Lieve Claes, Berten Ceulemans, Dominique Audenaert et al. · Human Mutation · 2003 · 202 citations

Scn1a Mutations, Rare Diseases, Major Cause +15

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

A Denayer, Hilde Van Esch, Thomy de Ravel et al. · Molecular Syndromology · 2012 · 99 citations · Full text

Severe Myoclonic Epilepsy in Infancy: Toward an Optimal Treatment

Berten Ceulemans, Marc Boel, Lieve Claes et al. · Journal of Child Neurology · 2004 · 62 citations

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

Thomy de Ravel, Irina Balikova, Paul Thiry et al. · European Journal of Medical Genetics · 2009 · 25 citations

Genetic Disorder, Genetics, Pathology +5

Cohen syndrome and de novo reciprocal translocation t(5;7) (q33.1;p15.1)

J. P. Fryns, A Kleczkowska, Eric Smeets et al. · American Journal of Medical Genetics · 1990 · 12 citations