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KCNQ1OT1
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Mgr. Tereza Kuníková
External person at Second Faculty of Medicine
16 publications
Publications
publication
Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi – optimalizace pro diagnostiku
2023 |
Second Faculty of Medicine
publication
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
2023 |
Second Faculty of Medicine
publication
Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members
2020 |
Second Faculty of Medicine
publication
A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies
2019 |
Second Faculty of Medicine, Central Library of Charles University
publication
Diagnostika dědičných kardiovaskulárních onemocnění: pohled molekulárního genetika a cytogenetika
2019 |
Second Faculty of Medicine
publication
Jak interpretovat genetické vyšetření v éře sekvenování nové generace
2019 |
Second Faculty of Medicine
publication
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature
2018 |
Second Faculty of Medicine
publication
Duplikace genu PMP22 u pacientky se syndromem Potocki-Lupski
2018 |
Second Faculty of Medicine
publication
Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects
2018 |
Second Faculty of Medicine
publication
Delece 2q13 u pacienta s Marfanovým syndromem
2017 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
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