Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Berk ÖZYILMAZ"'
Autor:
Özlem HÜRMEYDAN, Özlem ÇAKIR MADENCİ, Fatma ERDOĞMUŞ, Berk ÖZYILMAZ, Taha Reşid ÖZDEMİR, Nihal YÜCEL
Publikováno v:
Turkiye Klinikleri Journal of Case Reports. 31:58-62
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79c916a2cc328223700b9209bdc6d33e
https://doi.org/10.5336/caserep.2022-94777
https://doi.org/10.5336/caserep.2022-94777
Publikováno v:
Turkiye Klinikleri Journal of Case Reports. 30:91-94
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6b4ca08ebc4cf380604586294492363
https://doi.org/10.5336/caserep.2021-86119
https://doi.org/10.5336/caserep.2021-86119
Autor:
Gonul Catli, Wen Gao, Corinne Foley, Berk Özyilmaz, Neslihan Edeer, Gulden Diniz, Monique Losekoot, Jaap van Doorn, Andrew Dauber, Bumin N. Dundar, Jan M. Wit, Vivian Hwa
STAT5B deficiency, a rare autosomal recessive disorder characterized by severe growth hormone insensitivity (GHI) and immunodeficiency, can manifest as fatal pulmonary complications. We describe atypical STAT5B deficiency associated with a novel homo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d50b5b18d1ef6de0654caf7d12303ec
https://hdl.handle.net/11454/79578
https://hdl.handle.net/11454/79578
Publikováno v:
Indian Journal of Pathology and Microbiology, Vol 65, Iss 2, Pp 305-310 (2022)
Background/Aims: As targeted therapies are promising in the treatment of lung cancer (LC), it is important to identify the genetic variations in tumors. The present research aimed to determine the regional prevalence of alterations in ALK, ROS1, and
Externí odkaz:
https://doaj.org/article/37562cc2b99e4a648fc265e4de55e37b
Publikováno v:
Türk Nöroloji Dergisi, Vol 27, Iss 4, Pp 390-393 (2021)
Objective: We aimed to determine the association between a polymorphism in the promoter region of the IL-1beta gene resulting in enhanced gene transcription and the clinical phenotype of temporal lobe epilepsy with hippocampal sclerosis (TLE+HS). Ma
Externí odkaz:
https://doaj.org/article/66f0c4448d2d45d2a2fa7369d8cce573
Publikováno v:
Türk Patoloji Dergisi, Vol 38, Iss 1, Pp 079-081 (2022)
Dear Editor, Neuromuscular disorders still keep their mystery 1. Considering that cases with very mild symptoms cannot be diagnosed at all, it is almost impossible to know the true prevalence of these diseases 2. Relatively little information about
Externí odkaz:
https://doaj.org/article/0abc724cfcc3479da8cf0ec3a5d8cc9e
Publikováno v:
Türk Nöroloji Dergisi, Vol 27, Iss 3, Pp 340-342 (2021)
The fragile X mental retardation 1 gene located on the X-chromosome plays a role in protein synthesis of the same name (fragile X mental retardation protein). The normal allele of this gene has 5-40 CGG repeats, wherein >200 repeats of the same trinu
Externí odkaz:
https://doaj.org/article/62d8ef8951a24dc1aa70d88a21d50905
Autor:
Semra Gursoy, Esra Ataman, Bahar Toklu Baysal, Berk Özyılmaz, Pınar Gençpınar, Ayşe Semra Hız, Uluç Yiş, Aycan Ünalp, Nihal Olgaç Dündar, Ayfer Ülgenalp, Derya Erçal
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 2, Pp 206-210 (2020)
Background and Aims:PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females. The clinical manifestations are heterogeneous and the main features include early onset seizure, gen
Externí odkaz:
https://doaj.org/article/c09e579b34b3452381f5265ddeb77d7b
Publikováno v:
Pharmaceuticals, Vol 15, Iss 12, p 1535 (2022)
Craniofrontonasal syndrome (CFNS), also known as craniofrontonasal dysplasia, is an X-linked inherited developmental malformation caused by mutations in the ephrin B1 (EFNB1) gene. The main phenotypic features of the syndrome are coronal synostosis,
Externí odkaz:
https://doaj.org/article/fd341f2398c345f5b33a3937a4b99471
Autor:
Berk Özyılmaz, Gül Caner Mercan, Özgür Kırbıyık, Taha Reşid Özdemir, Samira Özkara, Özge Özer Kaya, Yaşar Bekir Kutbay, Kadri Murat Erdoğan, Merve Saka Güvenç, Altuğ Koç
Publikováno v:
Turkish Archives of Otorhinolaryngology, Vol 57, Iss 3, Pp 140-148 (2019)
Objective:The aim of this study is to investigate the efficiency of a first-line molecular genetic evaluation approach, in children with deafness.Methods:Patients who were found to have sensorineural hearing loss by age-appropriate audiological tests
Externí odkaz:
https://doaj.org/article/66a97428e8c94324ac5de34e16d365bb