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Wouter Koole

Showing results (11-20 of 17) with videos related to

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Journal of Medical Genetics|December 18, 2025
Evidence for pathogenicity of <i>BRCA2</i> c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetranceSetareh Moghadasi, Maria Zanti, Fonnet Bleeker, et al.
BJU International|September 2, 2025
Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancerMichiel Vlaming, Wouter Koole, R Jeroen A van Moorselaar, et al.
Human Genetics|December 12, 2018
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairmentJeroen J Smits, Jaap Oostrik, Andy J Beynon, et al.
BMJ Neurology Open|February 23, 2026
Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALSKoen Cedric Demaegd, Wouter Koole, Joke Jfa van Vugt, 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.
Blood|March 5, 2020
MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerizationEvelien G G Sprenkeler, Stefanie S V Henriet, Anton T J Tool, et al.
European Journal of Human Genetics : EJHG|February 16, 2025
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2Koen C Demaegd, Aoife Kernan, Johnathan Cooper-Knock, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Journal of Medical Genetics|December 18, 2025
Evidence for pathogenicity of <i>BRCA2</i> c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetranceSetareh Moghadasi, Maria Zanti, Fonnet Bleeker, et al.
BJU International|September 2, 2025
Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancerMichiel Vlaming, Wouter Koole, R Jeroen A van Moorselaar, et al.
Human Genetics|December 12, 2018
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairmentJeroen J Smits, Jaap Oostrik, Andy J Beynon, et al.
BMJ Neurology Open|February 23, 2026
Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALSKoen Cedric Demaegd, Wouter Koole, Joke Jfa van Vugt, 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.
Blood|March 5, 2020
MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerizationEvelien G G Sprenkeler, Stefanie S V Henriet, Anton T J Tool, et al.
European Journal of Human Genetics : EJHG|February 16, 2025
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2Koen C Demaegd, Aoife Kernan, Johnathan Cooper-Knock, et al.
Pageof 2