ℹ️
🇬🇧
Search
Search for people relevant for "Phenotype"
Phenotype
Person
Class
Person
Publication
Programmes
MUDr. Alena Zumrová Ph.D.
Academic staff at Second Faculty of Medicine
103 publications
Publications
publication
A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia
2014 |
Second Faculty of Medicine
publication
Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion
2005 |
Second Faculty of Medicine
publication
Diagnostic possibilities of Prader-Willi and of Angelman syndromes
2005 |
Second Faculty of Medicine
publication
Can ataxin-2 be down-regulated by allele-specific de novo DNA methylation in SCA2 patients?
2004 |
Second Faculty of Medicine
publication
Detection of deletions and uniparental disomies in Prader-Willi and Angelman syndromes - methodical and interpretational aspects
2000 |
Second Faculty of Medicine
publication
Hereditary ataxias in the Czech Republic
1998 |
Second Faculty of Medicine, Central Library of Charles University
publication
Poruchy rovnováhy v dětském věku
2023 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Third Faculty of Medicine
publication
Examining the Correlation Between Neurofilament Levels and Clinical Features in a Friedreich Ataxia Cohort from the Czech Republic
2023 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Friedreich's Ataxia: Treatment on the Horizon!
2023 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Friedreich's Ataxia in the Czech Republic: New Drug and Treatment Perspectives
+1
2023 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
Load more publications (93)
Loading network view...