Výsledky vyhledávání - "Henryk Rysiewski"

High Prevalence of Primary Ovarian Insufficiency in Girls and Young Women with Nijmegen Breakage Syndrome: Evidence from a Longitudinal Study

Autor: Krystyna H. Chrzanowska, Bożena Cukrowska, Malgorzata Walewska-Wolf, Maria Gajdulewicz, Roman Janas, Hanna Gregorek, Maria Szarras-Czapnik, Małgorzata Syczewska, Małgorzata Krajewska-Walasek, Jolanta Szufladowicz-Wozniak, Maria Kalina, Henryk Rysiewski, Dorota Piekutowska-Abramczuk, Malgorzata Gajtko-Metera

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 95:3133-3140

Nijmegen breakage syndrome (NBS) is a severe chromosomal instability disorder characterized by microcephaly, growth retardation, immune deficiency, and predisposition for malignancy. It is caused by hypomorphic mutations in the NBN gene, which produc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2789166f21e21437308fe5993d2b6ca8
https://doi.org/10.1210/jc.2009-2628

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