Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Tülay Tos"'
Autor:
Tülay Tos, Enis Özkaya, Vakkas Korkmaz, Yeşim Özkaya, Ajlan Tukun, Oya Gökmen, Tuncay Küçüközkan
Publikováno v:
Gynecology Obstetrics & Reproductive Medicine, Vol 18, Iss 3 (2012)
OBJECTIVE: We sought to determine the value of well defined screening method in predicting trisomy cases in our institution. STUDY DESIGN: Totally 300 amniocentesis cases were screened from prospectively collected database. Subjects were referred to
Externí odkaz:
https://doaj.org/article/1773e192dced4127864ec9284e140278
Publikováno v:
Haseki Tıp Bülteni, Vol 49, Iss 1, Pp 37-38 (2011)
Externí odkaz:
https://doaj.org/article/fe813abb36ce4a0c83580528afc1ef33
Autor:
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a
Externí odkaz:
https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770
Publikováno v:
The Tohoku Journal of Experimental Medicine. 206:299-304
Thallium-201 (201Tl) has been widely used as a nuclear reagent for myocardial blood flow imaging. The purpose of this study was to investigate genotoxic effects of 201Tl in patients with angina pectoris (n = 21), who had undergone myocardial perfusio
Publikováno v:
Turkiye Klinikleri Journal of Medical Sciences. 33:588-590
Publikováno v:
Olgu Ek Sayısı-2014; Volume:, Issue: 3-5
Ankara Medical Journal
Ankara Medical Journal
ÖzetCornelia de Lange sendromu (CDL) karekteristik atipik yüz bulguları, prenatal ve postnatal gelişme geriliği ve zeka geriliği ile karakterizedir. Diğer bir adı Brachman de Lange sendromu diye geçmektedir. 1/10000-1/60000 sıklığında g
Publikováno v:
Annals of the Rheumatic Diseases. 62:775-777
The analysis of sister chromatid exchange (SCE) is a cytogenetic technique used to show DNA damage due to an exchange of DNA fragments between sister chromatids.To determine whether HLA-B27 positive patients with ankylosing spondylitis (AS) were asso
Publikováno v:
South African Journal of Obstetrics and Gynaecology, Vol 21, Iss 2, Pp 52-53 (2015)
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder of unknown causation, associated with multiple congenital anomalies. Prenatal genetic diagnosis is possible, and the syndrome can occur in subsequent pregnancies of families with affected c
Autor:
Ayşegül Ozantürk, Jan D Marshall, Gayle B Collin, Selma Düzenli, Robert P Marshall, Şükrü Candan, Tülay Tos, İhsan Esen, Mustafa Taşkesen, Atilla Çayır, Şükrü Öztürk, İhsan Üstün, Esra Ataman, Emin Karaca, Taha Reşid Özdemir, İlknur Erol, Fehime Kara Eroğlu, Deniz Torun, Erhan Parıltay, Elif Yılmaz-Güleç, Ender Karaca, M Emre Atabek, Nursel Elçioğlu, İlhan Satman, Claes Möller, Jean Muller, Jürgen K Naggert, Rıza Köksal Özgül
Publikováno v:
Journal of Human Genetics. 60:51-51
Publikováno v:
International Journal of Case Reports and Images. 5:215
Introduction: Pentalogy of cantrell is a rare syndrome of unknown etiology characterized by multiple structural congenital anomalies. case report: We aimed to present an early diagnosed case of pentalogy of cantrell accompanied by craniorachischisis.