Search Results - "Kordowska, Olga"
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Successful Salvage Treosulfan-Based Megachemotherapy With Allogeneic Stem Cell Transplantation in Nonsyndromic, Therapy-Resistant Disseminated Juvenile Xanthogranuloma: A Case Report
Published in Transplantation proceedings (01-11-2020)“…Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder classified as non-Langerhans cell histiocytosis; although it is usually a benign and…”
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Journal Article -
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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981)
Published in Journal of Mother and Child (30-04-2021)“…The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene,…”
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Journal Article