Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Rabia Miray KIŞLA EKİNCİ"'
Publikováno v:
Turkish Archives of Pediatrics, Vol 59, Iss 6, Pp 527-534 (2024)
Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disorder, characterized by recurrent fever and serositis. It primarily affects individuals of Mediterranean descent, including Arabs, Armenians, Turks, and Jews. The
Externí odkaz:
https://doaj.org/article/e66f65c168304965b555a33cc7deb318
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-6 (2024)
Abstract Background Multiple cartilaginous exostoses (MCE) are a rare genetic disorder characterized by multiple osteochondromas in the metaphysis of long bones. Case Presentation. We report a 15-year-old male patient, his father, and his brother, al
Externí odkaz:
https://doaj.org/article/55f8085ad666464ea5d51b46a7d1c8e5
Publikováno v:
Rheumatology, Vol 59, Iss 6, Pp 373-377 (2021)
Externí odkaz:
https://doaj.org/article/12b72b86296b4b7eaebb1f45a313fd3f
Autor:
Dilek Doğruel, Gökhan Tümgör, Rabia Miray Kisla Ekinci, Eray Akay, İlksen Demir, Mahir Serbes, Derya Altintas, Sibel Balcı
Publikováno v:
Cukurova Medical Journal, Vol 45, Iss 4, Pp 1768-1774 (2020)
Purpose: The aim of this study was to compare the frequency of functional gastrointestinal diseases (FGIDs) in juvenile idiopathic arthritis (JIA) patients with healthy control children. Materials and Methods: This case-control study includes 193 chi
Externí odkaz:
https://doaj.org/article/67ac1f87fa2d4f7bbdf08ba081c307ef
Autor:
Sibel Balcı, İlksen Demir, Mahir Serbes, Dilek Doğruel, Derya Ufuk Altıntaş, Rabia Miray Kışla Ekinci
Publikováno v:
Rheumatology, Vol 58, Iss 6, Pp 367-374 (2020)
Externí odkaz:
https://doaj.org/article/4e57622269c0486daeec638398f61b28
Publikováno v:
Rheumatology, Vol 58, Iss 2, Pp 81-86 (2020)
Externí odkaz:
https://doaj.org/article/834ef243bba34683b154ce1326a7d7c5
Autor:
Faruk Incecik, Sibel Balci, Rabia Miray Kisla Ekinci, Ozlem M Herguner, Atil Bisgin, Mustafa Yilmaz
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 5, Pp 699-703 (2020)
Three prime repair exonuclease 1 (TREX1) degrades single- and double-stranded DNA with 3’-5’ exonuclease activity. TREX1 mutations are related to type 1 interferon-mediated autoinflammation owing to accumulated intracellular nucleic acids. Severa
Externí odkaz:
https://doaj.org/article/4b7cfba5ccfb4792ae03363261cd1f54
Autor:
Mustafa Yılmaz, Derya Ufuk Altıntaş, Sibel Balcı, Rabia Miray Kışla Ekinci, Dilek Doğruel, Mahir Serbes
Publikováno v:
Cukurova Medical Journal, Vol 44, Iss 4, Pp 1511-1514 (2019)
Juvenile dermatomyositis is a multisystemic autoimmune disease with uncertain etiology. Both innate immunity and adaptive immunity play a role on the pathogenesis of the disease. Selective immunoglobulin A deficiency is the most common primary immuno
Externí odkaz:
https://doaj.org/article/f793b647fe3a4006b0ddb9d9bd3cf5e9
Autor:
Rabia Miray Kışla Ekinci, Fatih Gürbüz, Sibel Balcı, Atıl Bişgin, Mehmet Taştan, Bilgin Yüksel, Mustafa Yılmaz
Publikováno v:
JCRPE, Vol 11, Iss 1, Pp 94-99 (2019)
Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 (GALNT3) genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). Patients w
Externí odkaz:
https://doaj.org/article/a282db191c3c48caaded2a872b202157
Autor:
Sibel BALCI, Rabia Miray KIŞLA EKİNCİ, Ferhat Can PİŞKİN, Engin MELEK, Bahriye ATMIŞ, Dilek DOĞRUEL, Derya Ufuk ALTINTAŞ, Aysun KARABAY BAYAZIT
Publikováno v:
Cukurova Medical Journal, Vol 45, Iss 1, Pp 200-207 (2020)
Amaç: Avasküler nekrozis (AVN), çocukluk çağı başlangıçlı sistemik lupus eritematozusun (jSLE) yıkıcı bir komplikasyonudur. Tek merkezden yapılan bu çalışmanın amacı jSLE hastalarında AVN sıklığını ve bu hastaların klinik ö
Externí odkaz:
https://doaj.org/article/c249b61ac3624058832c7d33823b0c1f