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Marcela Malíková
Person without affiliation with CUNI
24 publications
Publications
publication
Two novel variants of the MBTPS1 gene in Czech family with Kondo-Fu type spondyloepiphyseal dysplasia and cataract
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Ectodermal dysplasia: important role of complex dental care in its interdisciplinary management
2022 |
Second Faculty of Medicine
publication
Fanconi anemia in the Czech Republic: Role of HSCT and long-term follow-up
2020 |
Second Faculty of Medicine
publication
Inherited ichthyoses: molecular causes of the disease in Czech patients
2019 |
Publication without faculty affiliation
publication
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
2018 |
Second Faculty of Medicine
publication
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres
2018 |
Second Faculty of Medicine
publication
Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy
2018 |
Second Faculty of Medicine
publication
Evaluation of children's services the outpatient Child Obesity Clinic The Motol university hospital, Prague, Czech Republic
2017 |
Second Faculty of Medicine
publication
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Delece 18p v mozaice u pacienta s fenotypem připomínajícím syndrom Noonanové
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Mathematics and Physics
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