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Lenka Fajkusová

Masaryk University
Central European Institute of Technology

289

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743

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Hereditární tyrosinémie typ II, první případ v České republice

2021
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Limb-girdle muscular dystrophies

2021
- Lenka Fajkusová
- Jana Zídková
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Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic.

2021
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Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

2020 Journal of neuromuscular diseases
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Characteristics of a cohort of boys with Duchenne and Becker muscular dystrophies – a study from a single neuromuscular centre

2020 Ceska A Slovenska Neurologie A Neurochirurgie
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Types of congenital nonsyndromic ichthyoses. A review.

2020 Biomedical Papers-olomouc
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Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact

2020 Frontiers in Genetics
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Charakteristika souboru chlapců s Duchennovou a Beckerovou svalovou dystrofií - studie z jednoho nervosvalového centra

2020
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Genetic and neurobiological aspects of comorbid occurence of autism spectrum disorder and epilepsy

2019 Ceska A Slovenska Neurologie A Neurochirurgie
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Alagillův syndrom-arteriohepatální dysplázie: kazuistika

2019 Pediatría
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