MUDr. Blanka Pinková, Ph.D.

2024

• Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases

  SLABÁ Kateřina POKORNÁ Petra JUGAS Robin PÁLOVÁ Hana PROCHÁZKOVÁ Dagmar AULICKÁ Štefánia ŠPANĚLOVÁ Klára DANHOFER Pavlína HORÁK Ondřej TUČKOVÁ Jana KLEIBLOVÁ Petra GAILLYOVÁ Renata HRUNKA Matěj JOUZA Martin PINKOVÁ Blanka PAPEŽ Jan KONEČNÁ Petra ZÍDKOVÁ Jana ŠTOURAČ Petr ŠTĚRBA Jaroslav DEMLOVÁ Regina DEMLOVÁ Eva JABANDŽIEV Petr SLABÝ Ondřej

  Article in Periodical

  SCIENTIFIC REPORTS, year: 2024, volume: 14, edition: 1, DOI

• Kloubní hypermobilita a Gorlinovo znamení

  DOLEŽEL Zdeněk ŠŤASTNÁ Jana PINKOVÁ Blanka

  Article in Periodical (without peer review)

  Year: 2024, type: Article in Periodical (without peer review)

2023

• Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly effective with limited toxicity

  ŠTĚRBA Martin POKORNÁ Petra FABEROVÁ Renata PINKOVÁ Blanka SKOTÁKOVÁ Jarmila SEEHOFNEROVÁ Anna BLATNÝ Jan JANIGOVÁ Lucia KOŠKOVÁ Olga PÁLOVÁ Hana MAHDAL Michal PAZOUREK Lukáš JABANDŽIEV Petr SLABÝ Ondřej MÚDRY Peter ŠTĚRBA Jaroslav

  Article in Periodical

  Scientific reports, year: 2023, volume: 13, edition: 1, DOI

2022

• Eozinofilní celulitida - Wellsův syndrom

  REKOVÁ Alice PINKOVÁ Blanka DOLEŽEL Zdeněk

  Article in Periodical

  Pediatrie pro praxi, year: 2022, volume: 23, edition: 2, DOI

2020

• Sight-threatening Complication of Cicatricial Ectropion in a Patient with Lamellar Ichthyosis - Case Report

  RYBÁROVÁ Natália PINKOVÁ Blanka DOŠKOVÁ Hana VLKOVÁ Eva

  Article in Periodical

  Acta Dermatovenerologica Croatica, year: 2020, volume: 28, edition: 1

• Types of congenital nonsyndromic ichthyoses

  PINKOVÁ Blanka BUČKOVÁ Hana BORSKÁ Romana FAJKUSOVÁ Lenka

  Article in Periodical

  Biomedical Papers, Olomouc: Palacky University, year: 2020, volume: 164, edition: 4, DOI

2019

• Inherited ichthyoses: molecular causes of the disease in Czech patients

  BORSKÁ Romana PINKOVÁ Blanka RÉBLOVÁ Kamila BUČKOVÁ Hana KOPEČKOVÁ Lenka NĚMEČKOVÁ Jitka PUCHMAJEROVÁ Alena MALÍKOVÁ Marcela HERMANOVÁ Markéta FAJKUSOVÁ Lenka

  Article in Periodical

  ORPHANET JOURNAL OF RARE DISEASES, year: 2019, volume: 14, edition: 92, DOI

2018

• Morbus Darier

  DOLEŽEL Zdeněk PINKOVÁ Blanka BUČKOVÁ Hana AUTRATOVÁ Pavlína

  Article in Periodical

  Pediatrie pro praxi, year: 2018, volume: 19, edition: 2

2017

• Xeroderma pigmentosum, pachyonychia congenita - kazuistiky

  NĚMEČKOVÁ Jitka GAILLYOVÁ Renata BUČKOVÁ Hana PINKOVÁ Blanka BORSKÁ Romana KOPEČKOVÁ Lenka FAJKUSOVÁ Lenka

  Requested lectures

  Year: 2017, type: Requested lectures

2015

• Molecular genetic diagnostics of epidermolysis bullosa in the Czech Republic

  KOPEČKOVÁ Lenka ŠILEROVÁ Pavla BUČKOVÁ Hana PINKOVÁ Blanka GAILLYOVÁ Renata NĚMEČKOVÁ Jitka FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2015, type: Conference abstract