P. Hedvičáková

发表

Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy

E. Zapletalová, P. Hedvičáková, L. Kozák, 2007, Neuromuscular Disorders.

Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

P. Hedvičáková, P. Seeman, J. Zamecnik, 2013, Journal of neurogenetics.

Fluorescent Multiplex PCR: Fast Method for Autosomal Dominant Spinocerebellar Ataxias Screening

N. Nukina, P. Hedvičáková, A. Tomek, 2005, Russian Journal of Genetics.

Spinal muscular atrophy in childhood - actual treatment options

P. Hedvičáková, J. Haberlová, T. Doušová, 2022, Neurologie pro praxi.

Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.

M. Trková, Z. Sedlacek, R. Kodet, 2005, European journal of cancer.

Molecular and clinical characterization of two patients with Prader–Willi syndrome and atypical deletions of proximal chromosome 15q

Z. Sedlacek, P. Hedvičáková, G. Křečková, 2008, American journal of medical genetics. Part A.

A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.

M. Trková, L. Forétova, Z. Sedlacek, 2003, Cancer genetics and cytogenetics.

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.

Z. Sedlacek, P. Hedvičáková, M. Tesařová, 2006, Biochemical and biophysical research communications.

Spinal muscular atrophy - diagnostics, therapy, research

P. Hedvičáková, T. Doušová, J. Haberlova, 2016 .

Point mutations in Czech DMD/BMD patients and their phenotypic outcome

M. Hermanová, P. Hedvičáková, P. Vondracek, 2009, Neuromuscular Disorders.

Array comparative genome hybridization in patients with developmental delay: two example cases.

Z. Sedlacek, P. Hedvičáková, M. Vlčková, 2012, New biotechnology.