Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Taha Reşid ÖZDEMİR"'
Autor:
Tuncay Goksel, Su Özgür, Aslı Tetik Vardarlı, Altuğ Koç, Haydar Soydaner Karakuş, Taha Reşid Özdemir, Kadri Murat Erdoğan, Ceyda Aldağ, Ali Veral, Berna Komurcuoglu, Pınar Gursoy, Mehmet Emin Arayici, Asim Leblebici, Türkan Yiğitbaşı, Hülya Ellidokuz, Yasemin Basbinar
Publikováno v:
Frontiers in Oncology, Vol 13 (2024)
IntroductionLung cancer (LC) is a leading cause of cancer-related mortality worldwide. Approximately 80% of LC cases are of the non-small cell lung cancer (NSCLC) type, and approximately two-thirds of these cases are diagnosed in advanced stages. Onl
Externí odkaz:
https://doaj.org/article/57288c4ea24c40eeb23772fa84cf3f73
Autor:
Tuğçe Aksu Uzunhan, Biray Ertürk, Pelin Özyavuz Çubuk, Bülent Uyanık, Akif Ayaz, Onur Akan, Taha Reşid Özdemir
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 10, Iss 2, Pp 127-135 (2020)
INTRODUCTION: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics. METHODS: Patients aged 0-18 years o
Externí odkaz:
https://doaj.org/article/6b1f1df915ae43d9b4dd617703a28fe2
Autor:
Gülçin Arslan, Sezer Acar, Taha Reşid Özdemir, Özlem Nalbantoğlu, Özgür Kırbıyık, Özge Köprülü, Beyhan Özkaya, Behzat Özkan
Publikováno v:
Journal of Pediatric Research, Vol 7, Iss 2, Pp 168-171 (2020)
Hyperinsulinemic hypoglycemia is a rare disease affecting infants and children. The frequency of HNF4A mutation is the third most common type following ABCC8 and KCNJ11 mutations. HNF4A inactivating mutations may cause hyperinsulinemic hypoglycemia g
Externí odkaz:
https://doaj.org/article/86137bb059904b54bbb9e2c291fb1adb
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
Autor:
Berk Özyılmaz, Taha Reşid Özdemir
Publikováno v:
Journal of Pediatric Research, Vol 6, Iss 3, Pp 247-251 (2019)
Aim:Cryopyrin-associated Periodic Syndromes (CAPS) are a subgroup of the Periodic fever syndromes, caused by mutations in the NLRP3 gene. NLRP3 gene mutations can cause three clinically different phenotypes. It is known that even the same mutations i
Externí odkaz:
https://doaj.org/article/b1a31f9506e34ab4b4e7d51e43f57492
Publikováno v:
Balkan Medical Journal, Vol 36, Iss 1, Pp 37-42 (2019)
Background: Lynch syndrome is an inherited cancer disorder that causes an increased lifetime risk of various types of cancers. Endometrial cancer is the most common extracolonic cancer in Lynch syndrome. Guidelines recommend that patients with endome
Externí odkaz:
https://doaj.org/article/5fa08d9792544a89989f71e88c0bfdb7
Autor:
Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker, Ferda Özkınay
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100657- (2020)
Introduction: Pathogenic variants in SURF1, a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS). Material-methods: Sixteen patients diagnosed to have SURF1-relat
Externí odkaz:
https://doaj.org/article/85bb37d44ad64c5dbc162b48778f03b7
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 3, Pp 156-160 (2018)
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with autosomal-dominant inheritance, which usually develops before 25 years of age. MODY is classically caused by a heterozygous mutation of genes known to affect insulin pr
Externí odkaz:
https://doaj.org/article/1e5969c93705477a86b4e2d5b36975a4
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:
Turkish archives of pediatrics. 57(3)
Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. Gilbert synd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6a27708e50df9b40fef7ad502495b164
https://pubmed.ncbi.nlm.nih.gov/35781232
https://pubmed.ncbi.nlm.nih.gov/35781232