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Egbert Bakker

Showing results (31-40 of 52) with videos related to

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Human Mutation|August 12, 2008
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programsMaaike P G Vreeswijk, Jaennelle N Kraan, Heleen M van der Klift, et al.
Human Mutation|September 17, 2011
Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangementsMarion Phylipsen, Attawut Chaibunruang, Ingrid P Vogelaar, et al.
Neurology|August 15, 2014
Population-based incidence and prevalence of facioscapulohumeral dystrophyJohanna C W Deenen, Hisse Arnts, Silvère M van der Maarel, et al.
Clinical Case Reports|September 8, 2017
A novel keratin 13 variant in a four-generation family with white sponge nevusStephanie B de Haseth, Egbert Bakker, Maarten H Vermeer, et al.
The Journal of Clinical Endocrinology and Metabolism|November 12, 2010
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosisSarina G Kant, Hetty J van der Kamp, Marjolein Kriek, et al.
European Journal of Human Genetics : EJHG|July 24, 2008
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centresMarielle E van Gijn, Stéphan Soler, Claire de la Chapelle, et al.
European Journal of Medical Genetics|June 14, 2011
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocationAntoinet C J Gijsbers, Johannes G Dauwerse, Cathy A J Bosch, et al.
Clinical Chemistry|January 15, 2013
Successful noninvasive trisomy 18 detection using single molecule sequencingJessica M E van den Oever, Sahila Balkassmi, Lennart F Johansson, et al.
European Journal of Medical Genetics|June 15, 2010
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypesAntoinet C J Gijsbers, Cathy A J Bosch, Johannes G Dauwerse, et al.
European Journal of Human Genetics : EJHG|March 29, 2012
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in EuropeRos Hastings, Guido de Wert, Brian Fowler, et al.
Pageof 6

Showing results (31-40 of 52) with videos related to

Sort By:
Pageof 6
Human Mutation|August 12, 2008
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programsMaaike P G Vreeswijk, Jaennelle N Kraan, Heleen M van der Klift, et al.
Human Mutation|September 17, 2011
Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangementsMarion Phylipsen, Attawut Chaibunruang, Ingrid P Vogelaar, et al.
Neurology|August 15, 2014
Population-based incidence and prevalence of facioscapulohumeral dystrophyJohanna C W Deenen, Hisse Arnts, Silvère M van der Maarel, et al.
Clinical Case Reports|September 8, 2017
A novel keratin 13 variant in a four-generation family with white sponge nevusStephanie B de Haseth, Egbert Bakker, Maarten H Vermeer, et al.
The Journal of Clinical Endocrinology and Metabolism|November 12, 2010
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosisSarina G Kant, Hetty J van der Kamp, Marjolein Kriek, et al.
European Journal of Human Genetics : EJHG|July 24, 2008
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centresMarielle E van Gijn, Stéphan Soler, Claire de la Chapelle, et al.
European Journal of Medical Genetics|June 14, 2011
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocationAntoinet C J Gijsbers, Johannes G Dauwerse, Cathy A J Bosch, et al.
Clinical Chemistry|January 15, 2013
Successful noninvasive trisomy 18 detection using single molecule sequencingJessica M E van den Oever, Sahila Balkassmi, Lennart F Johansson, et al.
European Journal of Medical Genetics|June 15, 2010
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypesAntoinet C J Gijsbers, Cathy A J Bosch, Johannes G Dauwerse, et al.
European Journal of Human Genetics : EJHG|March 29, 2012
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in EuropeRos Hastings, Guido de Wert, Brian Fowler, et al.
Pageof 6