Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Elçioğlu, Huriye Nursel"'
Autor:
ELÇİOĞLU, HURİYE NURSEL, ÇERMAN, EREN
Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. Methods: Conventional autozygosity mapping wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3098::e34fa38076beba8a652c098017cfa3ef
https://hdl.handle.net/11424/291138
https://hdl.handle.net/11424/291138
Kidney stone, also known as calcium oxalate nephrolithiasis, is one of the most common diseases worldwide. Calculi usually forms when urine becomes supersaturated with particular calcium salts such as calcium oxalate. In the present study, we investi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3098::6b358f66c112fe521fd5fd3d16e6726c
https://hdl.handle.net/11424/287166
https://hdl.handle.net/11424/287166
Akademický článek
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Autor:
ELÇİOĞLU, HURİYE NURSEL
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the prese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3098::cab96c4ca12988e23bcf6e9f0110de4f
https://hdl.handle.net/11424/242179
https://hdl.handle.net/11424/242179
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Bögershausen, Nina, ŞİMŞEK KİPER, PELİN ÖZLEM, Keupp, Katharina, Yiğit, Gökhan, BODUROĞLU, OSMAN KORAY, Strom, Tim M, Donnai, Dian, Stewart, Francis, Meitinger, Thomas, Lyonnet, Stanislas, Prontera, Paolo, ELÇİOĞLU, HURİYE NURSEL, Wieczorek, Dagmar, Zenker, Martin, Kranz, Andrea, Banka, Siddharth, Liu, Yicheng, KAYSERİLİ KARABEY, HÜLYA, ALANAY, YASEMİN, Angela, Matchan, Wollnik, Bernd, Beleggia, Filippo, Pohl, Esther, Tsai, I Chun, PERÇİN, FERDA EMRİYE, Li, Yun, Katsanis, Nicholas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10046::e02d9eee0ba8a862192c6b95e61b9d32
https://avesis.gazi.edu.tr/publication/details/a7fe1e78-dd2f-49ba-91d0-48992f09dddb/oai
https://avesis.gazi.edu.tr/publication/details/a7fe1e78-dd2f-49ba-91d0-48992f09dddb/oai
Autor:
ELÇİOĞLU, HURİYE NURSEL
Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for primary cilia growth and maintenance and for hedgehog signaling functions. The IFT dynein-2 mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3098::59f93ad9ed99e0ae5c7c2eeb700ed39d
https://hdl.handle.net/11424/245543
https://hdl.handle.net/11424/245543
Autor:
ELÇİOĞLU, HURİYE NURSEL
Human piebaldism is a rare autosomal dominant disorder that comprises congenital patchy depigmentation of the scalp, forehead, trunk and limbs. It is caused by mutations in the cell-surface receptor tyrosine kinase gene (KIT, also c-kit). We screened
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3098::7063f6e0d2943618840ce6b57b32b5f1
https://hdl.handle.net/11424/245538
https://hdl.handle.net/11424/245538
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology; 2015 Supplement, Vol. 7, p89-89, 1/2p
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology; 2015 Supplement, Vol. 7, p85-85, 1/2p