Mutation in the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene in a patient with acute lymphoblastic leukemia by Ewelina Gowin, Katarzyna Bąbol-Pokora, Danuta Januszkiewicz-Lewandowska

Get full text

Paternity analysis based on NGM SElect system in the Medical and Forensic Genetics Laboratory, Department of Forensic Medicine, Medical University of Lodz by Beata Markiewicz-Knyziak, Maciej Jędrzejczyk, Katarzyna Bąbol-Pokora, Rafał Wojtkiewicz, Renata Jacewicz

Get full text

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report by Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski, Sylwia Kołtan

Get full text

Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib by Stanisława Bazan-Socha, Ada Gradzikiewicz, Magdalena Celińska-Lowenhoff, Aleksandra Matyja-Bednarczyk, Anna Maciołek, Katarzyna Bąbol-Pokora

Get full text

Analiza genetyczna szczątków ludzkich ekshumowanych podczas badań archeologicznych na terenie byłego poligonu na Brusie w Łodzi by Ewelina Dębska, Piotr A. Nowakowski, Renata Jacewicz, Katarzyna Bąbol-Pokora, Adam Prośniak, Maciej Jędrzejczyk, Jarosław Berent

Get full text

An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel Germline <i>TP53</i> p.Phe338Leu Tetramerisation Domain Variant by Justyna Walenciak, Zuzanna Urbanska, Agata Pastorczak, Katarzyna Babol-Pokora, Kamila Wypyszczak, Ewa Bien, Aleksandra Gawlowska-Marciniak, Jozef Kobos, Wieslawa Grajkowska, Joanna Smyczynska, Wojciech Mlynarski, Szymon Janczar

Get full text

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation by Nel Dabrowska-Leonik, Agata Karolina Pastorczak, Katarzyna Bąbol-Pokora, Katarzyna Bernat-Sitarz, Barbara Piątosa, Edyta Heropolitańska-Pliszka, Magdalena M. Kacprzak, Krzysztof Kalwak, Katarzyna Gul, Mirjam van der Burg, Marek Ussowicz, Malgorzata Pac

Get full text

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries by Svetlana O. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, Beata Wolska-Kuśnierz, Nel Dabrowska-Leonik, Bozena Mikołuć, Olga E. Pashchenko, Srdjan Pasic, Tomáš Freiberger, Tomáš Freiberger, Tomáš Milota, Tomáš Milota, Renata Formánková, Renata Formánková, Anna Szaflarska, Maciej Siedlar, Maciej Siedlar, Tadej Avčin, Tadej Avčin, Gašper Markelj, Gašper Markelj, Peter Ciznar, Krzysztof Kalwak, Sylwia Kołtan, Sylwia Kołtan, Teresa Jackowska, Katarzyna Drabko, Alenka Gagro, Alenka Gagro, Małgorzata Pac, Elissaveta Naumova, Snezhina Kandilarova, Katarzyna Babol-Pokora, Dzmitry S. Varabyou, Barbara H. Barendregt, Elena V. Raykina, Tatiana V. Varlamova, Anna V. Pavlova, Hana Grombirikova, Hana Grombirikova, Maruša Debeljak, Maruša Debeljak, Irina V. Mersiyanova, Anastasiia V. Bondarenko, Liudmyla I. Chernyshova, Larysa V. Kostyuchenko, Marina N. Guseva, Jelena Rascon, Audrone Muleviciene, Egle Preiksaitiene, Christoph B. Geier, Alexander Leiss-Piller, Yasuhiro Yamazaki, Tomoki Kawai, Jolan E. Walter, Jolan E. Walter, Irina V. Kondratenko, Anna Šedivá, Anna Šedivá, Mirjam van der Burg, Mirjam van der Burg, Natalia B. Kuzmenko, Luigi D. Notarangelo, Ewa Bernatowska, Olga V. Aleinikova

Get full text