Výsledky vyhledávání - "ÖZLEM, GÖRÜKMEZ"

Clinical significance of hypouricemia in children and adolescents

Autor: Adem Yasin Köksoy, Özlem Görükmez, Sevil Dorum

Publikováno v: Pediatric Nephrology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::957d47045edcb9b293945d3c55619f07
https://doi.org/10.1007/s00467-023-05948-4

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Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability

Autor: Elif Söbü, Gül Demet Kaya Özçora, Özlem Görükmez, Bahtiyar Şahinoğlu

Publikováno v: Journal of Pediatric Endocrinology and Metabolism.

Objectives Lathosterolosis is a rare autosomal recessive congenital disease that occurs due to homozygous or compound heterozygous mutations in the sterol C5-desaturase (SC5D) gene. We report a male patient with biallelic missense variant detected in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3b4ad29bad35a9e971468bf1d0fe9d5b
https://doi.org/10.1515/jpem-2022-0586

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Türkiye’de Alkaptonüri: 66 hastanın klinik ve genetik özellikleri

Autor: BÜLBÜL, SELDA FATMA, KÜÇÜKCONGAR, AYNUR, ARSLAN GÜLTEN, ZÜMRÜT, ÖZLEM, GÖRÜKMEZ, UÇAR, ÜLKÜ, ÖZTÜRK HİŞMİ, BURCU, Erdol, Şahin, KILIÇ YILDIRIM, GONCA, Dorum, Sevil, ÜNAL UZUN, ÖZLEM, Çakar, Nafiye Emel, GÜNDÜZ, MEHMET, Teke Kısa, Pelin, YARKAN TUĞSAL, HANDAN, SARI, İSMAİL, ARSLAN, NUR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2605::cfb343de3e9b12b80bfa039a8b217a65
https://avesis.deu.edu.tr/publication/details/d536a78a-6850-4218-b1f0-46d9d408ed2d/oai

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Associations between polymorphisms of IL-17F and IL-17A genes with disease activity and clinical outcome of Ankylosing Spondylitis

Autor: Esra Erkol İnal, Orhan Görükmez, Selma Eroğlu, Şebnem Özemri Sağ, Özlem Solak, Özlem Görükmez, Tahsin Yakut

Publikováno v: Acta Reumatológica Portuguesa, Vol 2016, Iss 3, Pp 232-239 (2016)

Aims In this study, we aimed to investigate the associations between the 7383A/G and 7488A/G polymorphisms of the interleukin (IL)-17F gene and the G197A polymorphism of the IL-17A gene with disease activity and clinical outcomes in Turkish patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8873222bdb87a7d609c2d6c22e80c509
http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/93334

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