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inherited disorders of carbohydrate metabolism
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MUDr. Emílie Vyhnálková Ph.D.
External academic staff at Second Faculty of Medicine
19 publications
Publications
publication
Genetic findings in Czech patients with limb girdle muscular dystrophy
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Novel MECR mutation in a Czech patient with childhood-onset dystonia, optic atrophy, and basal ganglia abnormality
2022 |
Second Faculty of Medicine, Faculty of Physical Education and Sport, Centre for Knowledge and Technology Transfer
publication
SPG11: clinical and genetic features of seven Czech patients and literature review
2022 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
2022 |
Second Faculty of Medicine
publication
Neurology
2021 |
Central Library of Charles University, Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Medicine in Pilsen
publication
CANVAS - a newly identified genetic cause of late-onset ataxia. Description of the first cases in the Czech Republic
2021 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Congenital fibrosis of external oculomotor muscles in a Czech family and its molecular genetic cause
2021 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Neuropsychiatry: a clinical guide for outpatient and clinical practice
2020 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Medicine in Pilsen
publication
Dětská mozková obrna
2020 |
Second Faculty of Medicine
publication
Neurodegenerative disorders
2019 |
Central Library of Charles University, Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
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