Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies

by Pavlina Capkova, Zuzana Capkova, Peter Rohon, Katerina Adamová, Jirina Zapletalova
Published 2020-11-01

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants

by Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Adamova, Martin Prochazka, Marian Hajduch
Published 2021-03-01

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

by Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka
Published 2019-11-01

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

by Pavlina Capkova, Josef Srovnal, Zuzana Capkova, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka
Published 2019-01-01