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doc. MUDr. Jana Haberlová Ph.D.
Academic staff at Second Faculty of Medicine
83 publications
Publications
publication
Czech National Guillain-Barre Syndrome Registry
2017 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
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
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
Spinal muscular atrophy - diagnostics, therapy, research
+1
2016 |
Second Faculty of Medicine
publication
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children - frequent and underestimated cause of disability among Czech gypsies
2014 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
2014 |
Second Faculty of Medicine
publication
Health-Related Quality of Life in Children and Adolescents With Spinal Muscular Atrophy in the Czech Republic
2014 |
Second Faculty of Medicine
publication
Floppy baby with skin abnormality - a case report of 6 years old boy with diagnosis of congenital muscular dystrophy type Ullrich
2014 |
Second Faculty of Medicine
publication
X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports
2013 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
2013 |
Second Faculty of Medicine
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