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Philadelphia chromosome
Person
Class
Person
Publication
Programmes
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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