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E Jansen

Showing results (561-570 of 767) with videos related to

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BMC Medical Genetics|May 1, 2015
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutationsMark Nellist, Rutger W W Brouwer, Christel E M Kockx, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP studyBarbara Ogórek, Lana Hamieh, Hanna M Hulshof, et al.
Human Molecular Genetics|November 1, 2016
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritanceSteven J Lubbe, Valentina Escott-Price, J Raphael Gibbs, et al.
Biomedicines|August 26, 2022
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis ComplexMirte Scheper, Alessia Romagnolo, Zein Mersini Besharat, et al.
Journal of Clinical Immunology|October 18, 2020
Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the NetherlandsMaartje Blom, Robbert G M Bredius, Marleen E Jansen, et al.
The Lancet. Neurology|June 21, 2017
Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohortsGanqiang Liu, Joseph J Locascio, Jean-Christophe Corvol, et al.
JAMA Neurology|June 7, 2017
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune DiseasesAree Witoelar, Iris E Jansen, Yunpeng Wang, et al.
European Journal of Human Genetics : EJHG|October 11, 2020
Regulatory landscape of providing information on newborn screening to parents across EuropeVěra Franková, Riona O Driscoll, Marleen E Jansen, et al.
Oncotarget|December 10, 2017
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent <i>TSC1/TSC2</i> biallelic inactivation, and no <i>BRAF</i> mutationsAnika Bongaarts, Krinio Giannikou, Roy J Reinten, et al.
Alzheimer'S Research & Therapy|February 5, 2022
Challenges at the APOE locus: a robust quality control approach for accurate APOE genotypingMichael E Belloy, Sarah J Eger, Yann Le Guen, et al.
Pageof 77

Showing results (561-570 of 767) with videos related to

Sort By:
Pageof 77
BMC Medical Genetics|May 1, 2015
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutationsMark Nellist, Rutger W W Brouwer, Christel E M Kockx, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP studyBarbara Ogórek, Lana Hamieh, Hanna M Hulshof, et al.
Human Molecular Genetics|November 1, 2016
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritanceSteven J Lubbe, Valentina Escott-Price, J Raphael Gibbs, et al.
Biomedicines|August 26, 2022
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis ComplexMirte Scheper, Alessia Romagnolo, Zein Mersini Besharat, et al.
Journal of Clinical Immunology|October 18, 2020
Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the NetherlandsMaartje Blom, Robbert G M Bredius, Marleen E Jansen, et al.
The Lancet. Neurology|June 21, 2017
Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohortsGanqiang Liu, Joseph J Locascio, Jean-Christophe Corvol, et al.
JAMA Neurology|June 7, 2017
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune DiseasesAree Witoelar, Iris E Jansen, Yunpeng Wang, et al.
European Journal of Human Genetics : EJHG|October 11, 2020
Regulatory landscape of providing information on newborn screening to parents across EuropeVěra Franková, Riona O Driscoll, Marleen E Jansen, et al.
Oncotarget|December 10, 2017
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent <i>TSC1/TSC2</i> biallelic inactivation, and no <i>BRAF</i> mutationsAnika Bongaarts, Krinio Giannikou, Roy J Reinten, et al.
Alzheimer'S Research & Therapy|February 5, 2022
Challenges at the APOE locus: a robust quality control approach for accurate APOE genotypingMichael E Belloy, Sarah J Eger, Yann Le Guen, et al.
Pageof 77