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Marcel M A M Mannens

Showing results (1-10 of 87) with videos related to

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Nederlands Tijdschrift Voor Geneeskunde|October 15, 2019
[Clinical implications of epigenetic changes]Marcel M A M Mannens
Frontiers in Molecular Neuroscience|August 13, 2024
Molecular signatures in Mendelian neurodevelopment: a focus on ubiquitination driven DNA methylation aberrationsLiselot van der Laan, Nicky Ten Voorde, Marcel M A M Mannens, et al.
American Journal of Medical Genetics. Part A|May 29, 2020
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiencyEline A Verberne, Sonja Faries, Marcel M A M Mannens, et al.
European Journal of Human Genetics : EJHG|February 1, 2007
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndromeZahurul A Bhuiyan, Helen Stewart, Egbert J Redeker, et al.
Molecular Vision|May 17, 2008
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disordersEgbert J W Redeker, Annette S H de Visser, Arthur A B Bergen, 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.
Tropical Medicine & International Health : TM & IH|December 12, 2019
Hyperuricaemia and its association with 10-year risk of cardiovascular disease among migrant and non-migrant African populations: the RODAM studyFelix P Chilunga, Peter Henneman, Ana Requena-Méndez, et al.
Molecular Cytogenetics|November 29, 2023
Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromereLiselot van der Laan, Daniel R Hoekman, Esther J Wortelboer, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|May 6, 2017
Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathyAlexa M C Vermeer, Anneloes Janssen, Peter C Boorsma, et al.
Heart Rhythm|August 1, 2006
Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a familyPrince J Kannankeril, Zahurul A Bhuiyan, Dawood Darbar, et al.
Pageof 9

Showing results (1-10 of 87) with videos related to

Sort By:
Pageof 9
Nederlands Tijdschrift Voor Geneeskunde|October 15, 2019
[Clinical implications of epigenetic changes]Marcel M A M Mannens
Frontiers in Molecular Neuroscience|August 13, 2024
Molecular signatures in Mendelian neurodevelopment: a focus on ubiquitination driven DNA methylation aberrationsLiselot van der Laan, Nicky Ten Voorde, Marcel M A M Mannens, et al.
American Journal of Medical Genetics. Part A|May 29, 2020
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiencyEline A Verberne, Sonja Faries, Marcel M A M Mannens, et al.
European Journal of Human Genetics : EJHG|February 1, 2007
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndromeZahurul A Bhuiyan, Helen Stewart, Egbert J Redeker, et al.
Molecular Vision|May 17, 2008
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disordersEgbert J W Redeker, Annette S H de Visser, Arthur A B Bergen, 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.
Tropical Medicine & International Health : TM & IH|December 12, 2019
Hyperuricaemia and its association with 10-year risk of cardiovascular disease among migrant and non-migrant African populations: the RODAM studyFelix P Chilunga, Peter Henneman, Ana Requena-Méndez, et al.
Molecular Cytogenetics|November 29, 2023
Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromereLiselot van der Laan, Daniel R Hoekman, Esther J Wortelboer, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|May 6, 2017
Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathyAlexa M C Vermeer, Anneloes Janssen, Peter C Boorsma, et al.
Heart Rhythm|August 1, 2006
Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a familyPrince J Kannankeril, Zahurul A Bhuiyan, Dawood Darbar, et al.
Pageof 9