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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 24, 2023
Metachromatic leukodystrophy: To screen or not to screen?
An I Jonckheere, Sandra D K Kingma, François Eyskens, et al.
Clinical Genetics
|
October 28, 2024
Recognisable Neuroradiological Findings in Five Neurogenetic Disorders
Jessica Rosenblum, Marije Meuwissen, Anna C Jansen, et al.
Brain Sciences
|
January 28, 2026
A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome
Lusine Harutyunyan, Claudio P D'Incal, Anna C Jansen, et al.
Clinical Genetics
|
October 22, 2024
RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt
Jessica Rosenblum, Diane Beysen, Anna C Jansen, et al.
Epilepsia
|
May 24, 2025
Precision medicine in epilepsy: Clinicians' perspectives from an international qualitative study
Matthias De Wachter, Anne Juul, Annelies Colliers, et al.
Acta Neurologica Belgica
|
August 4, 2025
"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study"
Ellen Rijckmans, Lars De Strooper, Kathelijn Keymolen, et al.
Developmental Medicine and Child Neurology
|
July 17, 2015
The histopathology of polymicrogyria: a series of 71 brain autopsy studies
Anna C Jansen, Yves Robitaille, Mrinalini Honavar, et al.
Frontiers in Genetics
|
March 3, 2020
Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly
Katrien Stouffs, Patrick Verloo, Stefanie Brock, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 7, 2014
Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature
Caroline De Bruyn, Tim Vanderhasselt, Ibrahim Tanyalçin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 25, 2025
RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders: a systematic review
Jessica Rosenblum, Ellen Rijckmans, Randy Osei, et al.
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Search research articles
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Showing results (11-20 of 97) with videos related to
Sort By:
Page
of 10
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 24, 2023
Metachromatic leukodystrophy: To screen or not to screen?
An I Jonckheere, Sandra D K Kingma, François Eyskens, et al.
Clinical Genetics
|
October 28, 2024
Recognisable Neuroradiological Findings in Five Neurogenetic Disorders
Jessica Rosenblum, Marije Meuwissen, Anna C Jansen, et al.
Brain Sciences
|
January 28, 2026
A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome
Lusine Harutyunyan, Claudio P D'Incal, Anna C Jansen, et al.
Clinical Genetics
|
October 22, 2024
RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt
Jessica Rosenblum, Diane Beysen, Anna C Jansen, et al.
Epilepsia
|
May 24, 2025
Precision medicine in epilepsy: Clinicians' perspectives from an international qualitative study
Matthias De Wachter, Anne Juul, Annelies Colliers, et al.
Acta Neurologica Belgica
|
August 4, 2025
"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study"
Ellen Rijckmans, Lars De Strooper, Kathelijn Keymolen, et al.
Developmental Medicine and Child Neurology
|
July 17, 2015
The histopathology of polymicrogyria: a series of 71 brain autopsy studies
Anna C Jansen, Yves Robitaille, Mrinalini Honavar, et al.
Frontiers in Genetics
|
March 3, 2020
Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly
Katrien Stouffs, Patrick Verloo, Stefanie Brock, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 7, 2014
Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature
Caroline De Bruyn, Tim Vanderhasselt, Ibrahim Tanyalçin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 25, 2025
RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders: a systematic review
Jessica Rosenblum, Ellen Rijckmans, Randy Osei, et al.
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of 10