Katarzyna Bąbol‐Pokora

Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys

Marlena Ewertowska, Elżbieta Grześk, Anna Urbańczyk et al. · Allergy Asthma and Clinical Immunology · 2020 · 30 citations · Full text

Life Sciences, Genetics, Immunology +14

SNP-minisequencing as an excellent tool for analysing degraded DNA recovered from archival tissues.

Katarzyna Bąbol‐Pokora, Jarosław Berent · Acta Biochimica Polonica · 2008 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report

Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol‐Pokora et al. · Pediatric Rheumatology · 2017 · 20 citations · Full text

Life Sciences, Immunology, Molecular Genetics +17

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

Svetlana Sharapova, Małgorzata Skomska-Pawliszak, Yulia Rodina et al. · Frontiers in Immunology · 2020 · 20 citations · Full text

Life Sciences, Genetics, Immunology +17

Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland

Szymon Janczar, Katarzyna Bąbol‐Pokora, Izabela Jatczak‐Pawlik et al. · Thrombosis Research · 2020 · 14 citations · Full text

Life Sciences, Genetics, Hematology +16