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Sandra Jansen

Showing results (41-50 of 62) with videos related to

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Elife|June 19, 2024
<i>SOD1</i> is a synthetic-lethal target in <i>PPM1D</i>-mutant leukemia cellsLinda Zhang, Joanne I Hsu, Etienne D Braekeleer, et al.
Nature Medicine|May 14, 2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individualsAlexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, et al.
International Journal of Molecular Sciences|July 27, 2022
DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental SyndromeEline A Verberne, Liselot van der Laan, Sadegheh Haghshenas, et al.
Clinical Genetics|April 9, 2020
Primrose syndrome: Characterization of the phenotype in 42 patientsDaniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, et al.
Nature Medicine|January 23, 2003
VEGF: a modifier of the del22q11 (DiGeorge) syndrome?Ingeborg Stalmans, Diether Lambrechts, Frederik De Smet, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, 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.
American Journal of Human Genetics|February 9, 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.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
Elife|June 19, 2024
<i>SOD1</i> is a synthetic-lethal target in <i>PPM1D</i>-mutant leukemia cellsLinda Zhang, Joanne I Hsu, Etienne D Braekeleer, et al.
Nature Medicine|May 14, 2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individualsAlexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk, et al.
International Journal of Molecular Sciences|July 27, 2022
DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental SyndromeEline A Verberne, Liselot van der Laan, Sadegheh Haghshenas, et al.
Clinical Genetics|April 9, 2020
Primrose syndrome: Characterization of the phenotype in 42 patientsDaniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, et al.
Nature Medicine|January 23, 2003
VEGF: a modifier of the del22q11 (DiGeorge) syndrome?Ingeborg Stalmans, Diether Lambrechts, Frederik De Smet, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, 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.
American Journal of Human Genetics|February 9, 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.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.
Pageof 7