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Research report
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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
Spinocerebellar Ataxia 7 - a Case Report
2013 |
First Faculty of Medicine, Second Faculty of Medicine
publication
An Electrophysiological Study of Visual Processing in Spinocerebellar Ataxia Type 2 (SCA2)
2011 |
Second Faculty of Medicine
publication
anamnézy; defekt jednoho genu
2006 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
publication
Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation
2006 |
Second Faculty of Medicine
publication
A series of Czech patients and a survey of current views of biology and differential diagnosis
2006 |
Second Faculty of Medicine
publication
Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion
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
Not EEG abnormalities but epilepsy is associated with autistic regression and mental functioning in childhood autism
2004 |
Second Faculty of Medicine
publication
Primary Sjögren syndrome in child.
2000 |
Second Faculty of Medicine, Central Library of Charles University
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