Petra Hedvičáková

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

Vera Krutilkova, Marie Trková, Julie Fleitz et al. · European Journal of Cancer · 2005 · 98 citations

Somatic Variant, Germline Tp53 Mutations, Genetic Disorder +6

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

Jaroslava Paulasová Schwabová, Dana Šafka Brožková, B. Petrák et al. · Journal of Neurogenetics · 2013 · 43 citations

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

Eva Zapletalová, Petra Hedvičáková, Libor Kozák et al. · Neuromuscular Disorders · 2007 · 38 citations

Allelic Variant, Sma Patients, Point Mutations +11

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

Zuzana Mušová, Petra Hedvičáková, Marketa Mohrmann et al. · Biochemical and Biophysical Research Communications · 2006 · 26 citations

Retroposon Integration, Genetics, Molecular Biology +4

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

Jana Sedláčková, Petr Vondráček, Markéta Hermanová et al. · Neuromuscular Disorders · 2009 · 20 citations

Mendelian Disorder, Genetic Disorder, Medicine +6