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scopus: 7101600884

Egger, J.I.M

(Jos Egger)


patient syndrome disorder epilepsy deletion genet noonan syndrome verhoeven psychiatry symptom problem diagnosis noonan study report netherland phenotype university treatment radboud university nijmegen adult retardation abnormality behavior chromosome examination nijmegen behavioural psychosi alexithymia apathy behaviour children analysis microdeletion institute mutation department intelligence level genetic development history filippo ehmt 1 gene result centre feature kleefstra function aed ’s effect speech score cognition testosterone brain motor journal scale seizure burgt anticonvulsant syndrome mps iiib region defect neuropsychiatry adult patients aspect 11.2 postictal neuropsychological exposure table disease quality manganese san filippo b attention evaluation




10 Most Recent Publications

Recurrent major depression, ataxia, and cardiomyopathy: Association with a novel POLG mutation? (Article)
Verhoeven, W.M.A. Egger, J.I.M Kremer, B.P.H. de Pont, B.J.H.B. Marcelis, C.
2011-10-13
Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course (Article)
Verhoeven, W.M.A. Egger, J.I.M Vermeulen, K.M. Warrenburg, B. van de Kleefstra, T.
2011-10-01
Manganese and acute paranoid psychosis: A case report (Article)
Verhoeven, W.M.A. Egger, J.I.M Kuijpers, H.J.
2011-04-18
A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder (Article)
Verhoeven, W.M.A. Egger, J.I.M Brunner, H, Leeuw, N. de
2011-02-01
Sanfilippo B in an elderly female psychiatric patient: A rare but relevant diagnosis in presenile dementia (Article)
Verhoeven, W.M.A. Csepán, R. Marcellis, C.L.M. Lefeber, D.J. Egger, J.I.M Tuinier, S.
2010-08-01
An adult female patient with ring chromosome 21: Behavioural phenotype and results of high-resolution molecular characterisation (Article)
Verhoeven, W.M.A. Bon, B. van Egger, J.I.M Hoischen, A. Doelman, J.C.
2010-08-01
Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia (Article)
Verhoeven, W.M.A. Csepán, R. Marcellis, C.L.M. Lefeber, D.J. Egger, J.I.M Tuinier, S.
2010-08-01
Recurrent schizophrenia-like psychosis as first manifestation of epilepsy: a diagnostic challenge in neuropsychiatry (Article)
Verhoeven, W.M.A. Egger, J.I.M Gunning, W.B. Bevers, M. Pont, B.J.H.B.
2010-05-01
Behavioral phenotype in the 9q subtelomeric deletion syndrome: A report about two adult patients (Article)
Verhoeven, W.M.A. Kleefstra, T. Egger, J.I.M
2010-03-01
Neuropsychological and Behavioral Aspects of Noonan Syndrome (Article)
Wingbermühle, P.A.M. Egger, J.I.M Burgt, I. van der Verhoeven, W.M.A.
2009-12-01