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Syndrome CAN
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doc. MUDr. Jana Haberlová Ph.D.
Academic staff at Second Faculty of Medicine
83 publications
Publications
publication
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome
2020 |
Second Faculty of Medicine
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
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
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
Psycho-organic symptoms as early manifestation of adult onset POMT1 - related limb girdle muscular dystrophy
2014 |
Second Faculty of Medicine
publication
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy
2013 |
Second Faculty of Medicine
publication
Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy
2011 |
Second Faculty of Medicine
publication
Hereditary spastic paraplegia 3A associated with axonal neuropathy
2007 |
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
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