Methylation Genome-Wide Profiling in Lowly and Highly Efficient Somatic Cell Nuclear Transfer in Pigs

by Maciej Grzybek, Krzysztof Flisikowski, Tom Giles, Marta Dyjak, Rafal Ploski, Piotr Gasperowicz, Richard D. Emes, Pawel Lisowski
Published 2023-04-01

Epigenetic Findings in Twins with Esophageal Atresia

by Michal Błoch, Piotr Gasperowicz, Sylwester Gerus, Katarzyna Rasiewicz, Arleta Lebioda, Pawel Skiba, Rafal Płoski, Dariusz Patkowski, Pawel Karpiński, Robert Śmigiel
Published 2023-09-01

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome

by Magdalena Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, Małgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosińska, Piotr Gasperowicz, Katarzyna Gruszczyńska, Ewa Emich-Widera, Rafał Płoski
Published 2020-11-01

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

by Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski
Published 2021-12-01

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of...

by Agnieszka A. Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Gasperowicz, Jolanta Dorszewska, Wojciech Kozubski, Barbara Steinborn, Andrzej M. Kochański, Rafał Płoski
Published 2017-09-01

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

by 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
Published 2017-06-01

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <i>LAS1L</i> Gene

by Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Klaniewska, Zuzanna Gamrot, Ewa Gronska, Rafal Ploski, Robert Smigiel
Published 2022-04-01

Novel Loss of Function Variants in <i>CENPF</i> Including a Large Intragenic Deletion in Patients with Strømme Syndrome

by Doriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, Arvind Y. M. Sundaram, Pål Marius Bjørnstad, Krzysztof Szczałuba, Piotr Gasperowicz, Benjamin Kamien, Bård Nedregaard, Asbjørn Holmgren, Petter Strømme, Eirik Frengen
Published 2023-10-01

Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact

by Beata Mrozikiewicz-Rakowska, Ilona Szabłowska-Gadomska, Dominik Cysewski, Stefan Rudziński, Rafał Płoski, Piotr Gasperowicz, Magdalena Konarzewska, Jakub Zieliński, Mateusz Mieczkowski, Damian Sieńko, Tomasz Grzela, Maria Noszczyk, Barbara Paleska, Leszek Czupryniak, Malgorzata Lewandowska-Szumiel
Published 2023-01-01

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

by Robert Śmigiel, Mateusz Biela, Krzysztof Szmyd, Michal Błoch, Elżbieta Szmida, Paweł Skiba, Anna Walczak, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz, Piotr Stawiński, Anna Biernacka, Marzena Zielińska, Waldemar Gołębiowski, Agnieszka Jalowska, Grażyna Ohia, Bożena Głowska, Wojciech Walas, Barbara Królak-Olejnik, Paweł Krajewski, Jolanta Sykut-Cegielska, Maria M. Sąsiadek, Rafał Płoski
Published 2020-07-01