Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jolanta Szufladowicz"'
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
https://doi.org/10.1210/jc.2009-2628
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 20
Turner's syndrome (TS) is one of the most frequent diseases accompanied by growth deficiency. Though developmental disorders have been observed in the fetal period, there has been disagreement as to whether short stature is frequent in newborn girls
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b0bd244bad307eead326820daea0808
https://doi.org/10.1515/jpem.2007.20.5.607
https://doi.org/10.1515/jpem.2007.20.5.607
Publikováno v:
Endokrynologia, diabetologia i choroby przemiany materii wieku rozwojowego : organ Polskiego Towarzystwa Endokrynologow Dzieciecych. 12(2)
Body mass deficit at birth is one of the characteristic features observed in Turner's syndrome (TS). Body mass is lower than expected for gestational age in about 90% of TS-babies, and is below -2 SD (i.e. "small for gestational age") in about 20% of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::467775b8e1371a1ad8630fc94a0ab0c7
https://pubmed.ncbi.nlm.nih.gov/16813719
https://pubmed.ncbi.nlm.nih.gov/16813719