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Sanger sequencing
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doc. MUDr. Jana Haberlová Ph.D.
Academic staff at Second Faculty of Medicine
83 publications
Publications
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
publication
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
2022 |
Second Faculty of Medicine
publication
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
2022 |
Second Faculty of Medicine
publication
Spinal muscular atrophy in childhood - actual treatment options
2022 |
Second Faculty of Medicine
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