Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Burcu TURKGENC"'
Autor:
Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G. Temel
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-8 (2017)
Abstract Background Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heter
Externí odkaz:
https://doaj.org/article/547b936f1a3f48028b40b8469462b7d9
Autor:
İlhan Elmaci, Meric A. Altinoz, Eylem Burcu Kahraman Ozlu, Ramazan Sari, Ozlem Er, Cumhur Gokhan Ekmekci, Burcu Turkgenc, Alp Ozpinar, Emily Hacker, Aysel Ozpinar
Publikováno v:
European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP). 31(6)
Many investigations exist regarding the effect of the DNA repair enzyme MGMT (O 6 -methylguanine- DNA-methyltransferase)-encoding gene methylation on the antineoplasticity of temozolomide in glioblastoma patients. However, there exist surprisingly le
Autor:
Suzanne Lewis, Christina Ringmann Fagerberg, Miroslava Hancarova, Samantha Schilit, Burcu TURKGENC, Juliana Forte Mazzeu, Joana B Melo, Vytautas Kasiulevicius, Algirdas Utkus, Bitten Schönewolf-Greulich
Balanced chromosomal rearrangements (BCRs), including inversions, translocations, and insertions, reorganize large sections of the genome and contribute substantial risk for developmental disorders (DDs). However, the rarity and lack of systematic sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ba7a3206c69828015be12f094676aad
https://doi.org/10.1101/2022.02.15.22270795
https://doi.org/10.1101/2022.02.15.22270795
Autor:
Hayriye Sarıcaoğlu, Bahriye Karakas, Ozgur Kutuk, Ü Şeker, David P. Kelsell, Ozge Zorlu, Ç Oğur, Burcu Turkgenc, Sehime Gulsun Temel, M.C. Yakicier
Publikováno v:
Cell and Tissue Research. 378:267-277
Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheri
Autor:
Burcu Turkgenc, Güven Toksoy, Cengiz Yakicier, Oya Uyguner, Sehime Gulsun Temel, Elif Evke, Hülya Kayserili, Fahrettin Uysal, Ergun Cil, Özlem M. Bostan
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-8 (2017)
BMC Medical Genetics
BMC Medical Genetics
Background: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous
Autor:
Nina Neuhaus, Henrike Krenz, M. Murad Başar, Sabine Kliesch, Corinna Friedrich, Murat Cetinkaya, Roos M. Smits, Nadja Rotte, Frank Tüttelmann, Adrian Pilatz, Semra Kahraman, Joachim Wistuba, Burcu Turkgenc, Albrecht Röpke, Manon S. Oud, Susanne Ledig, Sehime Gulsun Temel, Alexandra M. Lopes, Donald F. Conrad, Daniela Fietz, Marius Wöste, Mahmut Cerkez Ergoren, Margot J. Wyrwoll, Martin Dugas, Joris A. Veltman, Kenneth I. Aston, Filipa Carvalho, João Gonçalves, Liina Nagirnaja, van der Heijden Gw
Male infertility affects ∼7% of men in Western societies, but its causes remain poorly understood. The most clinically severe form of male infertility is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis, but so f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94445d5e42914190742b05579134744e
Autor:
BÜLENT UYANIK, Burcu TURKGENC
Publikováno v:
Erciyes Medical Journal.
Autor:
Bart Loeys, Kerem Teralı, Aline Verstraeten, Mahmut Cerkez Ergoren, Burcu Turkgenc, Lut Van Laer, Ömer Tetik, Sehime Gulsun Temel, Gamze Mocan, Orhan Rodoplu
Publikováno v:
Connective tissue research
Marfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping phenotypes. Here, we report on an extended family pr
Autor:
Ozgur Kutuk, Aslıhan Tolun, Burcu Turkgenc, Cengiz Yakicier, Sehime Gulsun Temel, Aslı Giray, Burcin Sanlidag, Amber Eker
PubMed: 30058754 We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes, and onset of 31 to 57 years, which is not typical for a know
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d6bcd749736a9e4ec0b2c08ec683083
https://aperta.ulakbim.gov.tr/record/34271
https://aperta.ulakbim.gov.tr/record/34271
Autor:
Nese Akcan, Burcu Turkgenc, Sehime Gulsun Temel, Rüveyde Bundak, Nedime Serakinci, Nerin N. Bahceciler
Publikováno v:
Frontiers in Endocrinology
Introduction: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported a