Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant

por Justyna Paprocka, Szymon Ziętkiewicz, Szymon Ziętkiewicz, Joanna Kosińska, Ewa Kaczorowska, Rafał Płoski
Publicado 2021

Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up

por Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Marta Wawrzynowicz-Syczewska, Joanna Pawłowska, Irena Jankowska
Publicado 2021

Association between variants on chromosome 4q25, 16q22 and 1q21 and atrial fibrillation in the Polish population.

por Marek Kiliszek, Maria Franaszczyk, Edward Kozluk, Piotr Lodzinski, Agnieszka Piatkowska, Grażyna Broda, Rafal Ploski, Grzegorz Opolski
Publicado 2011

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

por Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski
Publicado 2021

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

por Grażyna T. Truszkowska, Zofia T. Bilińska, Angelika Muchowicz, Agnieszka Pollak, Anna Biernacka, Katarzyna Kozar-Kamińska, Piotr Stawiński, Piotr Gasperowicz, Joanna Kosińska, Tomasz Zieliński, Rafał Płoski
Publicado 2017

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

por Urszula Lechowicz, Tomasz Gambin, Agnieszka Pollak, Anna Podgorska, Piotr Stawinski, Andre Franke, Britt-Sabina Petersen, Malgorzata Firczuk, Monika Oldak, Henryk Skarzynski, Rafal Ploski
Publicado 2017

Association between age at diagnosis of Graves' disease and variants in genes involved in immune response.

por Beata Jurecka-Lubieniecka, Rafal Ploski, Dorota Kula, Aleksandra Krol, Tomasz Bednarczuk, Zofia Kolosza, Andrzej Tukiendorf, Sylwia Szpak-Ulczok, Anita Stanjek-Cichoracka, Joanna Polanska, Barbara Jarzab
Publicado 2013

Polymorphism of 9p21.3 locus is associated with 5-year survival in high-risk patients with myocardial infarction.

por Anna Szpakowicz, Marek Kiliszek, Witold Pepinski, Ewa Waszkiewicz, Maria Franaszczyk, Małgorzata Skawronska, Rafal Ploski, Anna Niemcunowicz-Janica, Sławomir Dobrzycki, Grzegorz Opolski, Włodzimierz Jerzy Musial, Karol Adam Kaminski
Publicado 2014