Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Nykel A"'
Autor:
Elżbieta Skowrońska-Jóźwiak, Agnieszka Gach, Anna Cyniak-Magierska, Anna Nykel, Monika Jurkowska, Andrzej Lewiński
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Resistance to thyroid hormone (RTH) is a syndrome characterized by impaired responsiveness of target tissues to thyroid hormones. The relationship between RTHβ and thyroid autoimmunity has been under research. In this study, we demonstrate a case re
Externí odkaz:
https://doaj.org/article/3e73bfe9ba494bc89aaedd2bbc1f6f15
Autor:
Agnieszka Gach, Iwona Pinkier, Urszula Wysocka, Kinga Sałacińska, Dominik Salachna, Maria Szarras-Czapnik, Aleksandra Pietrzyk, Agata Sakowicz, Anna Nykel, Lena Rutkowska, Magda Rybak-Krzyszkowska, Magda Socha, Aleksander Jamsheer, Lucjusz Jakubowski
Publikováno v:
Archives of Medical Science, Vol 18, Iss 2, Pp 353-364 (2020)
Introduction Congenital hypogonadotropic hypogonadism results from a dysfunction of the hypothalamic-pituitary-gonadal axis, which is essential for the development and function of the reproductive system. It may be associated with anosmia, referred t
Externí odkaz:
https://doaj.org/article/17273f549c61435aa7493a6bdccb2e0e
Autor:
Łukasz Kępczyński, Katarzyna Połatyńska, Anna Nykel, Jordan Sałamunia, Tadeusz Kałużewski, Andrzej Kużawczyk, Agnieszka Gach
Publikováno v:
Menopause Review, Vol 19, Iss 4, Pp 171-173 (2021)
Externí odkaz:
https://doaj.org/article/c80f8ccf58c5486896125aae80c2a4cf
Publikováno v:
Diagnostics, Vol 11, Iss 9, p 1607 (2021)
Prenatal samples obtained by amniocentesis or chorionic villus sampling are at risk of maternal cell contamination (MCC). In traditional prenatal analysis, MCC is recommended to be assayed by special tests, such as the short tandem repeat analysis an
Externí odkaz:
https://doaj.org/article/98c110e338304d97bcaa3219ce277be7
Publikováno v:
Diagnostics, Vol 11, Iss 7, p 1131 (2021)
Fetal aneuploidy is routinely diagnosed by karyotyping. The development of techniques for rapid aneuploidy detection based on the amplification reaction allows cheaper and rapid diagnosis. However, the currently available solutions have limitations.
Externí odkaz:
https://doaj.org/article/2771ee168ddb4a56907bf8f22c11c8f4
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 21, p 5486 (2019)
In the prenatal period, the copy number aberrations of chromosomes 13, 18, 21, X and Y account for over 80% of the clinically significant chromosome abnormalities. Classical cytogenetic analysis is the gold standard in invasive prenatal diagnostics b
Externí odkaz:
https://doaj.org/article/0f6f4c09462b4d159d8e3f6e50253b5a
Autor:
Skowrońska-Jóźwiak, Elżbieta, Gach, Agnieszka, Cyniak-Magierska, Anna, Nykel, Anna, Jurkowska, Monika, Lewiński, Andrzej
Publikováno v:
Frontiers in Genetics; 4/4/2023, Vol. 14, p1-4, 4p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Tadeusz Kałużewski, Łukasz Kępczyński, Agnieszka Gach, Anna Nykel, Andrzej Kużawczyk, Jordan Sałamunia, Katarzyna Połatyńska
Publikováno v:
Menopause Review, Vol 19, Iss 4, Pp 171-173 (2021)
Przegla̜d Menopauzalny = Menopause Review
Przegla̜d Menopauzalny = Menopause Review
Introduction Germinal pathogenic variants in BRCA1 and BRCA2 genes are associated with high risk of cancers, including breast, ovary, fallopian tubes and primary peritoneal. Non-oncological implications of germline pathogenic variants in BRCA1 and BR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d07f8cd3821aa68eea3369cce4be71f
https://www.termedia.pl/Age-of-natural-menopause-onset-in-BRCA1-2-carriers-systematic-review-r-nand-meta-analysis,4,42760,1,1.html
https://www.termedia.pl/Age-of-natural-menopause-onset-in-BRCA1-2-carriers-systematic-review-r-nand-meta-analysis,4,42760,1,1.html