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16p13.3
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Mgr. Miroslav Štolfa
External person at Second Faculty of Medicine
9 publications
Publications
publication
Mikroduplikační syndrom 16p13.3 u jednovaječných dvojčat s rozdílným fenotypem
2019 |
Second Faculty of Medicine
publication
Intronic microduplications of RBFOX1 gene and their phenotypic consequences
Publication without faculty affiliation
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 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
Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects
2018 |
Second Faculty of Medicine
publication
Delece 18p v mozaice u pacienta s fenotypem připomínajícím syndrom Noonanové
2016 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Mathematics and Physics
publication
CNVs in patients with epilepsy - Czech experience
Publication without faculty affiliation
publication
Complex cytogenetic and molecular genetic diagnostics of congenital heart defects
Publication without faculty affiliation
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