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doc. MUDr. Jana Haberlová Ph.D.
Academic staff at Second Faculty of Medicine
83 publications
Publications
publication
Muscular dystrophy in childhood
2019 |
Second Faculty of Medicine
publication
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
2018 |
Second Faculty of Medicine
publication
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic
2017 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Diagnostic Pitfalls of an Atypical Form of Congenital Muscular Dystrophy - Partial Merosin Deficiency - Case Reports
2017 |
Second Faculty of Medicine
publication
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A
2017 |
Second Faculty of Medicine
publication
Spinal muscular atrophy in context
2017 |
Second Faculty of Medicine
publication
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL
2016 |
Second Faculty of Medicine
publication
Hereditary neuropathy
+1
2015 |
Second Faculty of Medicine
publication
REaDY - Czech Registry of Muscular Dystrophies
2014 |
Second Faculty of Medicine
publication
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
2014 |
Second Faculty of Medicine
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