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Vaclava Curtisova

Showing results (1-10 of 10) with videos related to

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Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia|April 7, 2021
MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNVAndrea Stefekova, Pavlina Capkova, Zuzana Capkova, et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia|May 12, 2026
Spectrum of germline variants in a group of patients with ovarian cancerJulia Vrtelova, Petr Vrtel, Kristyna Kolarikova, et al.
Peerj|November 20, 2019
Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patientsZuzana Capkova, Pavlina Capkova, Josef Srovnal, et al.
Peerj|January 17, 2019
MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autismPavlina Capkova, Josef Srovnal, Zuzana Capkova, et al.
Journal of Community Genetics|March 15, 2017
Implementing genetic education in primary care: the Gen-Equip programmeMilena Paneque, Martina C Cornel, Vaclava Curtisova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2018
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languagesLeigh Jackson, Anita O'Connor, Milena Paneque, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2018
Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languagesLeigh Jackson, Anita O'Connor, Milena Paneque, et al.
Human Genetics|March 26, 2015
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoireDaniela Rusconi, Gloria Negri, Patrizia Colapietro, et al.
Breast (Edinburgh, Scotland)|March 30, 2024
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predispositionPetra Zemankova, Marta Cerna, Klara Horackova, et al.
Cancer Medicine|August 16, 2024
A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancerJana Soukupova, Barbora Stastna, Madiha Kanwal, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia|April 7, 2021
MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNVAndrea Stefekova, Pavlina Capkova, Zuzana Capkova, et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia|May 12, 2026
Spectrum of germline variants in a group of patients with ovarian cancerJulia Vrtelova, Petr Vrtel, Kristyna Kolarikova, et al.
Peerj|November 20, 2019
Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patientsZuzana Capkova, Pavlina Capkova, Josef Srovnal, et al.
Peerj|January 17, 2019
MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autismPavlina Capkova, Josef Srovnal, Zuzana Capkova, et al.
Journal of Community Genetics|March 15, 2017
Implementing genetic education in primary care: the Gen-Equip programmeMilena Paneque, Martina C Cornel, Vaclava Curtisova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2018
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languagesLeigh Jackson, Anita O'Connor, Milena Paneque, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2018
Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languagesLeigh Jackson, Anita O'Connor, Milena Paneque, et al.
Human Genetics|March 26, 2015
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoireDaniela Rusconi, Gloria Negri, Patrizia Colapietro, et al.
Breast (Edinburgh, Scotland)|March 30, 2024
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predispositionPetra Zemankova, Marta Cerna, Klara Horackova, et al.
Cancer Medicine|August 16, 2024
A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancerJana Soukupova, Barbora Stastna, Madiha Kanwal, et al.
Pageof 1