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doc. MUDr. Jana Haberlová Ph.D.
Academic staff at Second Faculty of Medicine
83 publications
Publications
publication
Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping
2019 |
Second Faculty of Medicine
publication
uchenne muscular dystrophy
2019 |
Second Faculty of Medicine
publication
Point mutations in Czech DMD/BMD patients and their phenotypic outcome
2009 |
Second Faculty of Medicine
publication
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial
2024 |
Second Faculty of Medicine
publication
Children's pneumology
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Genetic findings in Czech patients with limb girdle muscular dystrophy
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
2023 |
Second Faculty of Medicine
publication
A progressive KY myopathy could be caused by a missense pathogenic variant
2023 |
Second Faculty of Medicine
publication
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
2022 |
Second Faculty of Medicine
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