Total number of publications: 203
2004
-
Identification of homozygous KCNQ1 mutation in Romano-Ward family.
Programme and Abstracts Book - Human Genome Meeting, year: 2004
-
Medulloblastom/PNET - biologické znaky s prognostickým významem a jejich laboratorní vyšetření ve FN Brno
38. dny dětské neurologie. Sborník abstrakt, year: 2004
-
Spectrum of mutation and single-nucleotide polymorphism in long QT syndrome genes KCNQ1, KCNH2 and KCNE1.
Eur J Hum Genet, year: 2004, volume: 12, edition: suppl. 1
-
Variabilita klinických projevů u pacientů s geneticky potvrzenou diagnózou syndromu dlouhého QT
Cor et Vasa, year: 2004, volume: 46, edition: S4
2003
-
Genetika dystonií
Česká a slovenská neurologie a neurochirurgie, year: 2003, volume: 66/99, edition: 5
-
Molecular genetics of the long QT syndrome: screening for mutations in the genes KvLQT1, HERG and KCNE1 in Czech long QT families.
Eur J Hum Genet, year: 2003, edition: 11 suppl.1
-
Mutation detection in KCNE1 gene encoding cardiac channel subunit: first experience with using of SSCP analysis by capillary electrophoresis for maximize detection effiency.
Eur J Hum Genet, year: 2003, edition: 11 suppl.1
2002
-
Comparison of different formulas of QT interval correction in LQT families during exercise.
Book of Abstracts, 10th Alpe Adria Cardiology Meeting, year: 2002
-
Identifikace nové mutace genu KCNQ1 v české rodině s fenotypem LQT
Cor et Vasa, year: 2002, volume: 44, edition: suppl.
-
Mutational analyses of potassium channel gene KVLQT1 and identification of a novel long-QT syndrome mutation (T309I)
Eur J Hum Genet, year: 2002, edition: 10 suppl.1