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of 5
pro vyhledávání: '"Durmus Dogan"'
Autor:
Pembe Soylu Ustkoyuncu, Songül Gokay, Esra Eren, Durmus Dogan, Gokce Yıldız, Aysegul Yılmaz, Fatma Turkan Mutlu
Publikováno v:
JCRPE, Vol 12, Iss 4, Pp 427-431 (2020)
Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG). It results from mutations in the gene encoding microsomal TG transfer protein (MTTP). A nine-mo
Externí odkaz:
https://doaj.org/article/e70a9d0dae5c447186c7e88077f6ee03
Publikováno v:
Journal of Tropical Pediatrics. 69
NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::937e83bf6b7f78fab7e87cbc730af7ac
https://doi.org/10.1093/tropej/fmac108
https://doi.org/10.1093/tropej/fmac108
Autor:
Tuba Seven Menevse, Yasemin Kendir Demirkol, Busra Gurpinar Tosun, Elvan Bayramoglu, Melek Yildiz, Sezer Acar, Seda Erisen Karaca, Zerrin Orbak, Asan Onder, Elif Sobu, Ahmet Anık, Zeynep Atay, Fuat Bugrul, Ayse Derya Bulus, Korcan Demir, Durmus Dogan, Hamdi Cihan Emeksiz, Heves Kirmizibekmez, Nurhan Ozcan Murat, Akan Yaman, Serap Turan, Abdullah Bereket, Tulay Guran
Context There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66161d52b4c8c93bac44addb72e3c563
https://hdl.handle.net/20.500.12511/9391
https://hdl.handle.net/20.500.12511/9391
Autor:
Durmus Doğan, Taylan Çelik
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 14 (2024)
BackgroundGut microbiota studies in the field of endocrinology metabolism have attracted increasing attention in recent years. To comprehensively assess the evolving landscape of this research field, we conducted a thorough bibliometric analysis of g
Externí odkaz:
https://doaj.org/article/f1550d0b0e20495091801d4918f8f170
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionVitamin D binding protein (VDBP) plays a crucial role in vitamin D transport and metabolism. The rs4588-A polymorphism of the GC gene, encoding VDBP, has been associated with altered serum VDBP and 25-hydroxyvitamin D (25OHD) levels. Howe
Externí odkaz:
https://doaj.org/article/c1d3bd95258744f2bf63ed7a08cdf48f