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connexin 26
Person
Class
Person
Publication
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Marcela Malíková
Person without affiliation with CUNI
24 publications
Publications
publication
Double Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech Population
2005 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness
2004 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Examination ofthe Gene for Connexin 26 in Czech Patients with Congenital Autosomal Recessive Non-SyndromicHearing Loss
2002 |
Second Faculty of Medicine
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
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