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

por Capkova, Pavlina, Capkova, Zuzana, Rohon, Peter, Adamová, Katerina, Zapletalova, Jirina
Publicado 2020

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

por Capkova, Zuzana, Capkova, Pavlina, Srovnal, Josef, Adamova, Katerina, Prochazka, Martin, Hajduch, Marian
Publicado 2021

Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy

por Capkova, Pavlina, Santava, Alena, Markova, Ivana, Stefekova, Andrea, Srovnal, Josef, Staffova, Katerina, Durdová, Veronika
Publicado 2017

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

por Capkova, Pavlina, Srovnal, Josef, Capkova, Zuzana, Staffova, Katerina, Becvarova, Vera, Trkova, Marie, Adamova, Katerina, Santava, Alena, Curtisova, Vaclava, Hajduch, Marian, Prochazka, Martin
Publicado 2019

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

por Capkova, Zuzana, Capkova, Pavlina, Srovnal, Josef, Staffova, Katerina, Becvarova, Vera, Trkova, Marie, Adamova, Katerina, Santava, Alena, Curtisova, Vaclava, Hajduch, Marian, Prochazka, Martin
Publicado 2019