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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 CNV
Andrea 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 cancer
Julia 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 patients
Zuzana 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 autism
Pavlina Capkova, Josef Srovnal, Zuzana Capkova, et al.
Journal of Community Genetics
|
March 15, 2017
Implementing genetic education in primary care: the Gen-Equip programme
Milena 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 languages
Leigh 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 languages
Leigh 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 repertoire
Daniela 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 predisposition
Petra 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 cancer
Jana Soukupova, Barbora Stastna, Madiha Kanwal, et al.
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Search research articles
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Showing results (1-10 of 10) with videos related to
Sort By:
Page
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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 CNV
Andrea 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 cancer
Julia 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 patients
Zuzana 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 autism
Pavlina Capkova, Josef Srovnal, Zuzana Capkova, et al.
Journal of Community Genetics
|
March 15, 2017
Implementing genetic education in primary care: the Gen-Equip programme
Milena 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 languages
Leigh 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 languages
Leigh 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 repertoire
Daniela 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 predisposition
Petra 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 cancer
Jana Soukupova, Barbora Stastna, Madiha Kanwal, et al.
Page
of 1