Search

Search Results

• Turner’s Syndrome – genetic, diagnostic methods and clinical treatment

  Aleksandra Łokczewska-Bojar, Rami Ben Rhaiem, Przemysław Kępka, Daria Kuziemkowska, Jan Kuźma, Anna Łącka-Majcher, Grzegorz Tarsa, Magdalena Skotalczyk, Zuzanna Sawińska, Katarzyna Sudelska

  211-225

  2023-09-09
• Andersen Tawil syndrome – a case study

  Joanna Mroczek, Szymon Krzewski, Mateusz Baranowski

  45-50

  2021-04-22
• Diagnostic and therapeutic process of neurofibromatosis type 1 and type 2

  Michał Leśniewski, Iwona Welian-Polus, Izabela Oleksak, Karolina Maliszewska

  168-181

  2024-02-24
• Diagnostic and genetic markers associated with pulmonary tuberculosis in HIV-infected individuals

  Mykola Chemych, Svitlana Yanchuk, Kateryna Zhuk

  239-249

  2021-07-29
• Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland

  Dominika Anna Janeczko, Anna Orzeł, Barbara Klatka, Magdalena Hołowczuk, Grzegorz Szlichta

  703-707

  2019-09-22
• When should we think about Fabry disease?

  Natalia Chojnacka, Radosław Cymer, Karolina Jurasz, Dominika Podgórska, Ewa Rzeska, Miłosz Sanecki, Karolina Tomczyk, Jakub Klarycki

  24-31

  2024-01-19
• Parkes Weber Syndrome

  Adrianna Szeliga, Dominika Spyt, Ewelina Maćków, Mateusz Kasinowicz

  987-997

  2019-09-13
• Klinefelter Syndrome – Etiology, Clinical Presentation and Modern Approaches to the Diagnosis and Treatment: A Literature Review

  Katarzyna Kupczyk, Mikhail Kazachok, Szymon Paruszewski, Aleksandra Dybcio, Mikołaj Jońca, Natasza Kurys, Dorota Szydłowska, Adam Kubisa, Mateusz Miluski, Julia Kupczak

  2026-04-10
• Current dietary recommendations for patients with cystic fibrosis

  Katarzyna Stefańska, Monika Jakimiec-Komisarczyk, Paulina Terlecka, Marcelina Makuch, Joanna Jakimiec, Magdalena Igras-Kołdyj, Michał Szczyrek, Robert Kieszko, Agnieszka Zwolak, Janusz Milanowski, Robert Jan Łuczyk

  256-264

  2019-04-08
• Fragile X syndrome - insight into what we know and prospects

  Adam Strzoda, Magdalena Kamińska, Anna Strzoda, Agata Strzoda, Wojciech Sowiński, Michał Zdybel, Agata Juda, Kornelia Rojek

  59-63

  2023-04-08
• VEXAS Syndrome: A Comprehensive Review of Clinical Mimickers and Differential Diagnosis at the Rheumatology–Haematology Interface

  Hanna Aleksandrowicz, Zuzanna Kalinowska, Julia Sokołowska , Karolina Karska, Katarzyna Grunwald, Marcel Dawidowicz

  69345

  2026-03-10
• Retinoblastoma

  Agnieszka Budny, Cezary Grochowski

  204-213

  2018-06-28
• Acute lymphoblastic leukemia (ALL) with KMT2A gene rearrangement in infants - characteristic clinical picture based on a case report

  Maria Kowalczuk, Justyna Lipińska, Łukasz Lipiński, Monika Lejman, Joanna Zawitkowska

  266-273

  2022-03-31
• Gene Therapy and Down Syndrome: Can the future of Medicine bring a breakthrough?

  Katarzyna Gondek, Maria Wojcieszek, Maksymilian Czarnota, Dominika Gacka, Magdalena Fidelis, Aleksandra Żołnierek , Aleksandra Mączyńska, Wiktoria Szumlińska, Noor Alhuda Al-karawi, Paulina Kędziorek, Zuzanna Tanç

  60525

  2025-06-30
• Single nucleotide polymorphisms in adiponectin and its receptors’ genes as potential risk factors for coronary artery disease in type 2 diabetes mellitus – an up-to-date overview

  Joanna Szydełko, Izabela Dąbrowska

  722-734

  2021-09-28
• Understanding Rett Syndrome: Genetic, clinical and therapeutic perspectives - literature review

  Sylwia Urbańska, Aleksandra Witas, Martyna Borowska-Łygan, Justyna Pięta

  57074

  2025-01-14
• Prenatal testing - diagnostic possibilities in the 21st century with special emphasis on the diagnosis of genetic defects and heart defects

  Grzegorz Tarsa, Rami Ben Rhaiem, Katarzyna Sudelska, Zuzanna Sawińska, Przemysław Kępka, Aleksandra Łokczewska-Bojar, Daria Kuziemkowska, Jan Kuźma, Magdalena Skotalczyk, Anna Łącka-Majcher

  163-174

  2023-09-07