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Nijmegen breakage syndrome
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Mgr. Miroslav Štolfa
External person at Second Faculty of Medicine
9 publications
Publications
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
Mikroduplikační syndrom 16p13.3 u jednovaječných dvojčat s rozdílným fenotypem
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
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
publication
Intronic microduplications of RBFOX1 gene and their phenotypic consequences
Publication without faculty affiliation
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