Back to User profile » Prof. Dr. Jos Egger
Papers published by Prof. Dr. Jos Egger:
Case report
Case Reports
Etiological Diagnosis and Disease Course of Birk–Barel Syndrome in an Adult Woman with a KCNK9 Variant
Verhoeven W, Spee I, Ockeloen CW, Pfundt R, Egger J
International Medical Case Reports Journal 2026, 19:586990
Published Date: 17 March 2026
Case report
Case Reports
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability
Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI
International Medical Case Reports Journal 2025, 18:111-116
Published Date: 18 January 2025
Review
Neurocognitive Recovery in Abstinent Patients with Alcohol Use Disorder: A Scoping Review for Associated Factors
Staudt J, Kok T, de Haan HA, Walvoort SJW, Egger JIM
Neuropsychiatric Disease and Treatment 2023, 19:2039-2054
Published Date: 28 September 2023
Original Research
Neuropsychiatric Disease and Treatment
Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient
Verhoeven W, Zuijdam J, Scheick A, van Nieuwenhuijsen F, Zwemer AS, Pfundt R, Egger J
International Medical Case Reports Journal 2022, 15:753-759
Published Date: 23 December 2022