MUDr. Renata Gaillyová, Ph.D.

2019

• Novorozenecký screening cystické fibrózy a diagnostika CFSPID.

  BARTOŠOVÁ Jana ZEMKOVÁ D. HOLUBOVÁ Andrea GAILLYOVÁ Renata VALÁŠKOVÁ Iveta HOLČÍKOVÁ Alena MALÁ Miriam SKALICKÁ Veronika

  Article in Periodical

  Česko-slovenská pediatrie, year: 2019, volume: 74, edition: 7

• Related Encephalopathy in Family with Biotinidase Deficiency

  RYZÍ Michal GAILLYOVÁ Renata HORÁK Ondřej OŠLEJŠKOVÁ Hana

  Appeared in Conference without Proceedings

  Year: 2019, type: Appeared in Conference without Proceedings

• Targeted resequencing of genes associated with long QT syndrome in Czech patients: two newly identified likely pathogenic variants in previously investigated patient with negative results

  SYNKOVÁ Iva OSTADALOVA E. VALÁŠKOVÁ Iveta GAILLYOVÁ Renata NOVOTNÝ Tomáš ANDRŠOVÁ Irena FLORIANOVA A. VIT P.

  Conference abstract

  Year: 2019, type: Conference abstract

2018

• Tuberózní skleróza - od diagnostiky dítěte k terapii rodiče

  VEJMĚLKOVÁ Klára ZITTERBART Karel GAILLYOVÁ Renata BUČKOVÁ Hana ŠOUKALOVÁ Jana KEREKES Arpád ŠTĚRBA Jaroslav

  Conference abstract

  Year: 2018, type: Conference abstract

2017

• „Founder“ mutace asociované se syndromem dlouhého QT: Česká republika versus svět

  BÉBAROVÁ Markéta ANDRŠOVÁ Irena VALÁŠKOVÁ Iveta SYNKOVÁ Iva GAILLYOVÁ Renata VÍT Pavel NOVOTNÝ Tomáš

  Appeared in Conference without Proceedings

  Year: 2017, type: Appeared in Conference without Proceedings

• Familiální hemofagocytující lymfohistiocytóza - od autopsie k prenatální diagnostice. Kazuistika

  JEŽOVÁ Marta GAILLYOVÁ Renata

  Article in Periodical

  Cesk Patol, year: 2017, volume: 53, edition: 1

• Klinické a genetické charakteristiky mutace T309I-Kv7.1 asociované se syndromem dlouhého QT

  ŠATKOVÁ Júlia BÉBAROVÁ Markéta ANDRŠOVÁ Irena VALÁŠKOVÁ Iveta SYNKOVÁ Iva GAILLYOVÁ Renata VÍT Pavel NOVOTNÝ Tomáš

  Appeared in Conference without Proceedings

  Year: 2017, type: Appeared in Conference without Proceedings

• T309I-Kv7.1 mutation as a feasible founder LQT1 mutation: clinical, genetic and biophysical analysis

  BÉBAROVÁ Markéta VEJMĚLEK Adam HOŠEK Jan ANDRŠOVÁ Irena VALÁŠKOVÁ Iveta GAILLYOVÁ Renata VÍT Pavel NOVOTNÝ Tomáš

  Conference abstract

  Year: 2017, type: Conference abstract

• The clinical impact of targeted „next-generation“ sequencing in molecular diagnostics of intellectual disabilities and multiple congenital abnormalities

  WAYHELOVÁ Markéta OPPELT Jan SMETANA Jan PARDY Filip FILKOVÁ Hana GAILLYOVÁ Renata KUGLÍK Petr

  Appeared in Conference without Proceedings

  Year: 2017, type: Appeared in Conference without Proceedings

• The clinical utility of array-CGH and targeted NGS in idiopathic intellectual disabilities and developmental delays: a case report of SCN2A p.Ala263Val variant

  WAYHELOVÁ Markéta OPPELT Jan VESELÁ Denisa SMETANA Jan PARDY Filip FILKOVÁ Hana MATUCHOVÁ Dita ŠOUKALOVÁ Jana GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2017, type: Conference abstract