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Studium
František Malinka
Externí osoba na 1. lékařská fakulta
8 publikací
Publikace
publication
Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy
2022 |
1. lékařská fakulta
publication
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders
2021 |
1. lékařská fakulta
publication
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant
2020 |
1. lékařská fakulta, 2. lékařská fakulta
publication
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years
2020 |
1. lékařská fakulta
publication
Brittle cornea syndrome : Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years
2020 |
1. lékařská fakulta
publication
Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants
2020 |
1. lékařská fakulta
publication
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
2019 |
1. lékařská fakulta, 3. lékařská fakulta
publication
Molecular genetic cause of non-syndromic congenital and juvenile cataracts in the Czech population
Publikace bez příslušnosti k fakultě
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