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exon 7
Person
Class
Person
Publication
Programmes
Petra Hedvičáková
Person without affiliation with CUNI
20 publications
Publications
publication
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
2007 |
Second Faculty of Medicine
publication
Molecular etiopathogenesis of spinal muscular atrophy
2002 |
Second Faculty of Medicine
publication
Localized mosaic neurofibromatosis type 1
2022 |
Second Faculty of Medicine
publication
Spinal muscular atrophy in childhood - actual treatment options
2022 |
Second Faculty of Medicine
publication
Spinal muscular atrophy - actual situation and future steps
2021 |
Second Faculty of Medicine
publication
Characteristics of a cohort of boys with Duchenne and Becker muscular dystrophies - a study from a single neuromuscular centre
2020 |
Second Faculty of Medicine
publication
Genetics of spinal muscular atrophy
2020 |
Second Faculty of Medicine
publication
Spinal muscular atrophy - diagnostics, therapy, research
+1
2016 |
Second Faculty of Medicine
publication
Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
2013 |
Second Faculty of Medicine
publication
Array comparative genome hybridization in patients with developmental delay: two example cases
2012 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
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