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Mariëlle Alders

Showing results (1-10 of 61) with videos related to

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Pediatric Blood & Cancer|May 22, 2012
KCNQ1OT1 hypomethylation: a novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?Mark Wijnen, Mariëlle Alders, Christian M Zwaan, et al.
Journal of Child Neurology|March 13, 2015
Two Siblings With a CDKL5 Mutation: Genotype and Phenotype EvaluationEveline E O Hagebeuk, Carlo L Marcelis, Mariëlle Alders, et al.
Molecular Cytogenetics|January 31, 2012
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicismKarin Huijsdens-van Amsterdam, Daniela Qcm Barge-Schaapveld, Inge B Mathijssen, et al.
Clinical Epigenetics|January 12, 2025
Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignatureJan Fischer, Mariëlle Alders, Marcel M A M Mannens, et al.
European Journal of Human Genetics : EJHG|January 25, 2024
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literatureAmarens Hoogenboom, Farah A Falix, Liselot van der Laan, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrumArjan Bouman, Mariëlle Alders, Roelof Jan Oostra, et al.
European Journal of Medical Genetics|October 12, 2025
Expansion of the phenotype in ZFX neurodevelopmental disorder in a familyLinda van der Tol, Miranda de Jong, Mariëlle Alders, et al.
American Journal of Medical Genetics. Part A|April 5, 2013
Intellectual disability and hemizygous GPD2 mutationDaniela Q C M Barge-Schaapveld, Rob Ofman, Alida C Knegt, et al.
Epigenomics|March 2, 2022
Prenatal NeuN+ neurons of Down syndrome display aberrant integrative DNA methylation and gene expression profilesPeter Henneman, Adri N Mul, Andrew Yf Li Yim, et al.
European Journal of Medical Genetics|May 26, 2024
Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odysseyJasper J van der Smagt, Angeliki P Lampri, Iris de Lange, et al.
Pageof 7

Showing results (1-10 of 61) with videos related to

Sort By:
Pageof 7
Pediatric Blood & Cancer|May 22, 2012
KCNQ1OT1 hypomethylation: a novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?Mark Wijnen, Mariëlle Alders, Christian M Zwaan, et al.
Journal of Child Neurology|March 13, 2015
Two Siblings With a CDKL5 Mutation: Genotype and Phenotype EvaluationEveline E O Hagebeuk, Carlo L Marcelis, Mariëlle Alders, et al.
Molecular Cytogenetics|January 31, 2012
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicismKarin Huijsdens-van Amsterdam, Daniela Qcm Barge-Schaapveld, Inge B Mathijssen, et al.
Clinical Epigenetics|January 12, 2025
Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignatureJan Fischer, Mariëlle Alders, Marcel M A M Mannens, et al.
European Journal of Human Genetics : EJHG|January 25, 2024
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literatureAmarens Hoogenboom, Farah A Falix, Liselot van der Laan, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrumArjan Bouman, Mariëlle Alders, Roelof Jan Oostra, et al.
European Journal of Medical Genetics|October 12, 2025
Expansion of the phenotype in ZFX neurodevelopmental disorder in a familyLinda van der Tol, Miranda de Jong, Mariëlle Alders, et al.
American Journal of Medical Genetics. Part A|April 5, 2013
Intellectual disability and hemizygous GPD2 mutationDaniela Q C M Barge-Schaapveld, Rob Ofman, Alida C Knegt, et al.
Epigenomics|March 2, 2022
Prenatal NeuN+ neurons of Down syndrome display aberrant integrative DNA methylation and gene expression profilesPeter Henneman, Adri N Mul, Andrew Yf Li Yim, et al.
European Journal of Medical Genetics|May 26, 2024
Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odysseyJasper J van der Smagt, Angeliki P Lampri, Iris de Lange, et al.
Pageof 7