Zobrazeno 1 - 10
of 749
pro vyhledávání: '"Gürkan H"'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 49-58 (2021)
Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2. Therefore, it has been suggested that TNFRSF11A, which is among those modifying genes pr
Externí odkaz:
https://doaj.org/article/48facc1f06bf472389a6c3490ae32169
Autor:
Tozkır J; Trakya University Vocational School of Health Services, Edirne, Turkey., Yıldırım G; Atlascro Clinical Research Coordinator, Edirne, Turkey., Demir S; Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey., Palabıyık O; Trakya University Vocational School of Health Services, Edirne, Turkey., Görker I; Trakya University Faculty of Medicine, Department of Child and Adolescent Psychiatry, Edirne, Turkey., Gürkan H; Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey.
Publikováno v:
Noro psikiyatri arsivi [Noro Psikiyatr Ars] 2024 Aug 09; Vol. 67 (3), pp. 208-212. Date of Electronic Publication: 2024 Aug 09 (Print Publication: 2024).
Publikováno v:
Hippokratia. 2020, Vol. 24 Issue 2, p59-65. 7p.
Autor:
Yaşar Köstek H; Trakya University Faculty of Medicine, Department of Pediatric Endocrinology, Edirne, Turkey, Özgüç Çömlek F; Trakya University Faculty of Medicine, Department of Pediatric Endocrinology, Edirne, Turkey, Gürkan H; Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey, Özkayın EN; Trakya University Faculty of Medicine, Department of Pediatric Nephrology, Edirne, Turkey, Tütüncüler Kökenli F; Trakya University Faculty of Medicine, Department of Pediatric Endocrinology, Edirne, Turkey
Publikováno v:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 May 31; Vol. 16 (2), pp. 205-210. Date of Electronic Publication: 2022 Dec 13.
Autor:
Ulusal SD, Gürkan H, Atlı E, Özal SA, Çiftdemir M, Tozkır H, Karal Y, Güçlü H, Eker D, Görker I
Publikováno v:
Balkan Journal of Medical Genetics, Vol 20, Iss 1, Pp 13-20 (2017)
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of
Externí odkaz:
https://doaj.org/article/0eb5839efab14ea989364d2d7e93896b
Publikováno v:
Balkan Journal of Medical Genetics, Vol 19, Iss 2, Pp 85-90 (2016)
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) caus
Externí odkaz:
https://doaj.org/article/7f4fbf80b45f47bcad0ce5673e2bce95
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Publikováno v:
Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 77-82 (2015)
Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocat
Externí odkaz:
https://doaj.org/article/62d59b3caec5450399d13be871d9eb9d