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Jolanda H Schieving

Showing results (11-20 of 27) with videos related to

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International Journal of Radiation Oncology, Biology, Physics|June 12, 2012
Hypofractionation vs conventional radiation therapy for newly diagnosed diffuse intrinsic pontine glioma: a matched-cohort analysisGeert O Janssens, Marc H Jansen, Selmer J Lauwers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2017
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyLisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, et al.
Genes|January 21, 2022
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical ScoringDóra Nagy, Sarah Verheyen, Kristen M Wigby, et al.
Genome Medicine|June 16, 2022
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applicationsGaby Schobers, Jolanda H Schieving, Helger G Yntema, et al.
Neurology|July 24, 2015
Effect of vaccinations on seizure risk and disease course in Dravet syndromeNienke E Verbeek, Nicoline A T van der Maas, Anja C M Sonsma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2022
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional testsElise A Ferreira, Annemarijne R J Veenvliet, Udo F H Engelke, et al.
BMC Palliative Care|March 14, 2024
A Dutch paediatric palliative care guideline: a systematic review and evidence-based recommendations for symptom treatmentKim C van Teunenbroek, Renée L Mulder, Inge M L Ahout, et al.
Annals of Clinical and Translational Neurology|July 1, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structuresSietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, et al.
European Journal of Human Genetics : EJHG|September 7, 2019
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegiaMaartje Pennings, Meyke I Schouten, Judith van Gaalen, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

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Pageof 3
International Journal of Radiation Oncology, Biology, Physics|June 12, 2012
Hypofractionation vs conventional radiation therapy for newly diagnosed diffuse intrinsic pontine glioma: a matched-cohort analysisGeert O Janssens, Marc H Jansen, Selmer J Lauwers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2017
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyLisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, et al.
Genes|January 21, 2022
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical ScoringDóra Nagy, Sarah Verheyen, Kristen M Wigby, et al.
Genome Medicine|June 16, 2022
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applicationsGaby Schobers, Jolanda H Schieving, Helger G Yntema, et al.
Neurology|July 24, 2015
Effect of vaccinations on seizure risk and disease course in Dravet syndromeNienke E Verbeek, Nicoline A T van der Maas, Anja C M Sonsma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2022
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional testsElise A Ferreira, Annemarijne R J Veenvliet, Udo F H Engelke, et al.
BMC Palliative Care|March 14, 2024
A Dutch paediatric palliative care guideline: a systematic review and evidence-based recommendations for symptom treatmentKim C van Teunenbroek, Renée L Mulder, Inge M L Ahout, et al.
Annals of Clinical and Translational Neurology|July 1, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structuresSietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, et al.
European Journal of Human Genetics : EJHG|September 7, 2019
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegiaMaartje Pennings, Meyke I Schouten, Judith van Gaalen, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
Pageof 3