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European Heart Journal
|
October 21, 2019
A common variant in CCDC93 protects against myocardial infarction and cardiovascular mortality by regulating endosomal trafficking of low-density lipoprotein receptor
Antoine Rimbert, Nawar Dalila, Justina C Wolters, et al.
European Journal of Cancer (Oxford, England : 1990)
|
July 9, 2025
Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies
Jette J Bakhuizen, Freerk van Dijk, Sebastian B B Bon, et al.
Plos One
|
November 16, 2016
Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin
Tessel E Galesloot, Niek Verweij, Michela Traglia, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
March 1, 2022
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization
Janna A Hol, Roland P Kuiper, Freerk van Dijk, et al.
The Journal of Pathology
|
July 7, 2021
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors
Mariangela Sabatella, Tuomo Mantere, Esmé Waanders, et al.
Annals of Neurology
|
January 3, 2013
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19
Anna Duarri, Justyna Jezierska, Michiel Fokkens, et al.
The Lancet. Child & Adolescent Health
|
August 19, 2024
Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study
Jette J Bakhuizen, Freerk van Dijk, Marco J Koudijs, et al.
European Journal of Human Genetics : EJHG
|
June 5, 2014
Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'
Patrick Deelen, Androniki Menelaou, Elisabeth M van Leeuwen, et al.
Nature Communications
|
October 7, 2016
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
Jayne Y Hehir-Kwa, Tobias Marschall, Wigard P Kloosterman, et al.
Circulation Research
|
November 23, 2021
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome
Paolo Zanoni, Grigorios Panteloglou, Alaa Othman, et al.
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Search research articles
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Showing results (11-20 of 28) with videos related to
Sort By:
Page
of 3
European Heart Journal
|
October 21, 2019
A common variant in CCDC93 protects against myocardial infarction and cardiovascular mortality by regulating endosomal trafficking of low-density lipoprotein receptor
Antoine Rimbert, Nawar Dalila, Justina C Wolters, et al.
European Journal of Cancer (Oxford, England : 1990)
|
July 9, 2025
Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies
Jette J Bakhuizen, Freerk van Dijk, Sebastian B B Bon, et al.
Plos One
|
November 16, 2016
Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin
Tessel E Galesloot, Niek Verweij, Michela Traglia, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
March 1, 2022
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization
Janna A Hol, Roland P Kuiper, Freerk van Dijk, et al.
The Journal of Pathology
|
July 7, 2021
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors
Mariangela Sabatella, Tuomo Mantere, Esmé Waanders, et al.
Annals of Neurology
|
January 3, 2013
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19
Anna Duarri, Justyna Jezierska, Michiel Fokkens, et al.
The Lancet. Child & Adolescent Health
|
August 19, 2024
Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study
Jette J Bakhuizen, Freerk van Dijk, Marco J Koudijs, et al.
European Journal of Human Genetics : EJHG
|
June 5, 2014
Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'
Patrick Deelen, Androniki Menelaou, Elisabeth M van Leeuwen, et al.
Nature Communications
|
October 7, 2016
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
Jayne Y Hehir-Kwa, Tobias Marschall, Wigard P Kloosterman, et al.
Circulation Research
|
November 23, 2021
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome
Paolo Zanoni, Grigorios Panteloglou, Alaa Othman, et al.
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of 3