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Birgit Sikkema-Raddatz

Showing results (41-50 of 60) with videos related to

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International Journal of Cardiology|March 4, 2021
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patientsMohamed Z Alimohamed, Lennart F Johansson, Anna Posafalvi, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnosticsNicolien M Hanemaaijer, Birgit Sikkema-Raddatz, Gerben van der Vries, et al.
The New England Journal of Medicine|July 6, 2007
In vitro fertilization with preimplantation genetic screeningSebastiaan Mastenbroek, Moniek Twisk, Jannie van Echten-Arends, et al.
European Journal of Medical Genetics|March 31, 2009
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbancesMarianne Doornbos, Birgit Sikkema-Raddatz, Claudia A L Ruijvenkamp, et al.
Genome Medicine|August 25, 2020
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variationsShuang Li, K Joeri van der Velde, Dick de Ridder, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Central 22q11.2 deletionsPatrick Rump, Nicole de Leeuw, Anthonie J van Essen, et al.
Prenatal Diagnosis|July 7, 2020
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasoundNicole Corsten-Janssen, Katelijne Bouman, Janouk C D Diphoorn, et al.
Journal of Medical Genetics|April 19, 2020
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex developmentYolande van Bever, Hennie T Brüggenwirth, Katja P Wolffenbuttel, et al.
Journal of Medical Genetics|April 18, 2013
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertensionWilhelmina S Kerstjens-Frederikse, Ernie M H F Bongers, Marcus T R Roofthooft, et al.
European Journal of Human Genetics : EJHG|September 15, 2011
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomaliesBeata A Nowakowska, Nicole de Leeuw, Claudia Al Ruivenkamp, et al.
Pageof 6

Showing results (41-50 of 60) with videos related to

Sort By:
Pageof 6
International Journal of Cardiology|March 4, 2021
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patientsMohamed Z Alimohamed, Lennart F Johansson, Anna Posafalvi, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnosticsNicolien M Hanemaaijer, Birgit Sikkema-Raddatz, Gerben van der Vries, et al.
The New England Journal of Medicine|July 6, 2007
In vitro fertilization with preimplantation genetic screeningSebastiaan Mastenbroek, Moniek Twisk, Jannie van Echten-Arends, et al.
European Journal of Medical Genetics|March 31, 2009
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbancesMarianne Doornbos, Birgit Sikkema-Raddatz, Claudia A L Ruijvenkamp, et al.
Genome Medicine|August 25, 2020
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variationsShuang Li, K Joeri van der Velde, Dick de Ridder, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
Central 22q11.2 deletionsPatrick Rump, Nicole de Leeuw, Anthonie J van Essen, et al.
Prenatal Diagnosis|July 7, 2020
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasoundNicole Corsten-Janssen, Katelijne Bouman, Janouk C D Diphoorn, et al.
Journal of Medical Genetics|April 19, 2020
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex developmentYolande van Bever, Hennie T Brüggenwirth, Katja P Wolffenbuttel, et al.
Journal of Medical Genetics|April 18, 2013
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertensionWilhelmina S Kerstjens-Frederikse, Ernie M H F Bongers, Marcus T R Roofthooft, et al.
European Journal of Human Genetics : EJHG|September 15, 2011
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomaliesBeata A Nowakowska, Nicole de Leeuw, Claudia Al Ruivenkamp, et al.
Pageof 6