A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report

by Aleksandra Szczawinska-Poplonyk, Rafal Ploski, Ewa Bernatowska, Malgorzata Pac
Published 2020-03-01

Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?

by Agnieszka Ługowska, Joanna Ponińska, Paweł Krajewski, Grażyna Broda, Rafał Płoski
Published 2011-01-01

Genetic polymorphism of human Y chromosome and risk factors for cardiovascular diseases: a study in WOBASZ cohort.

by Grażyna Kostrzewa, Grażyna Broda, Magdalena Konarzewska, Paweł Krajewki, Rafał Płoski
Published 2013-01-01

Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case r...

by Barbara Grzechocińska, Damian Warzecha, Maria Wypchło, Rafal Ploski, Mirosław Wielgoś
Published 2019-07-01

The role of analysis of EVER2 haplotypes in actinic keratosis

by Agnieszka Kalińska-Bienias, Grażyna Kostrzewa, Magdalena Malejczyk, Rafał Płoski, Sławomir Majewski
Published 2016-05-01

An unusual case of epidermodysplasia verruciformis with mild cutaneous involvement and extensive genital cancers

by Joanna M. Sałkowska-Wanat, Leszek Trzeciak, Katarzyna Smolarczyk, Tomasz Pniewski, Rafał Płoski, Sławomir Majewski
Published 2016-06-01

Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2

by Edyta Szymańska, Dariusz Rokicki, Urszula Wątrobinska, Elżbieta Ciara, Paulina Halat, Rafał Płoski, Anna Tylki-Szymańka
Published 2015-09-01

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with <i>TMEM67</i> Mutations

by Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel
Published 2021-07-01

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

by Marek Kiliszek, Maria Franaszczyk, Edward Kozluk, Piotr Lodzinski, Agnieszka Piatkowska, Grażyna Broda, Rafal Ploski, Grzegorz Opolski
Published 2011-01-01

Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations

by Agnieszka Sanecka, Elzbieta Katarzyna Biernacka, Magdalena Sosna, Malgorzata Mueller-Malesinska, Rafal Ploski, Henryk Skarzynski, Ryszard Piotrowicz

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus

by Justyna A. Karolak, Tomasz Gambin, Malgorzata Rydzanicz, Piotr Polakowski, Rafal Ploski, Jacek P. Szaflik, Marzena Gajecka
Published 2020-04-01

Tyrosinemia type III in an asymptomatic girl

by Edyta Szymanska, Malgorzata Sredzinska, Elzbieta Ciara, Dorota Piekutowska-Abramczuk, Rafal Ploski, Dariusz Rokicki, Anna Tylki-Szymanska
Published 2015-12-01

Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome

by Malgorzata Ponikowska, Agnieszka Pollak, Ewa Kotwica-Strzalek, Dorota Brodowska-Kania, Magdalena Mosakowska, Rafal Ploski, Stanislaw Niemczyk
Published 2020-10-01

Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

by Ryszard Slezak, Robert Smigiel, Malgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosinska, Piotr Stawinski, Maria Malgorzata Sasiadek, Rafal Ploski
Published 2020-10-01

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level

by Monika Ołdak, Ewelina Ruszkowska, Monika Udziela, Dominika Oziębło, Ewelina Bińczyk, Aneta Ścieżyńska, Rafał Płoski, Jacek P. Szaflik
Published 2015-01-01

Massively parallel targeted resequencing reveals novel genetic variants associated with aspergillosis in paediatric patients with haematological malignancies

by Katarzyna Skonieczna, Jan Styczyński, Anna Krenska, Piotr Stawiński, Rafał Płoski, Katarzyna Derwich, Wanda Badowska, Mariusz Wysocki, Tomasz Grzybowski
Published 2017-11-01

Ultradeep Pyrosequencing of Hepatitis C Virus Hypervariable Region 1 in Quasispecies Analysis

by Kamila Caraballo Cortés, Osvaldo Zagordi, Tomasz Laskus, Rafał Płoski, Iwona Bukowska-Ośko, Agnieszka Pawełczyk, Hanna Berak, Marek Radkowski
Published 2013-01-01

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

by Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak, Rafał Płoski
Published 2017-12-01

A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the <i>RYR2</i> Gene

by Małgorzata Stępień-Wojno, Joanna Ponińska, Elżbieta K. Biernacka, Bogna Foss-Nieradko, Tomasz Chwyczko, Piotr Syska, Rafał Płoski, Zofia T. Bilińska
Published 2020-06-01

Differences in Gene-Gene Interactions in Graves' Disease Patients Stratified by Age of Onset.

by Beata Jurecka-Lubieniecka, Tomasz Bednarczuk, Rafal Ploski, Jolanta Krajewska, Dorota Kula, Malgorzata Kowalska, Andrzej Tukiendorf, Zofia Kolosza, Barbara Jarzab
Published 2016-01-01