Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Özgür Kirbiyik"'
Autor:
Melis Kose, Engin Kose, Mehtap Kagnici, Hande Gazeteci Tekin, Burçin Ozen, Taha Reşid Ozdemir, Özgür Kirbiyik, Huseyin Onay, Ünsal Yilmaz, Aycan Unalp
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 10, Iss 3, Pp 267-273 (2020)
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of genetic diseases that lead to impairment in protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 140 types of CDG have been identified and the nu
Externí odkaz:
https://doaj.org/article/977a1d9335fc4aa589ce2220388e7544
Autor:
Ali Bulbul, Belgin Kesim, Maja Sukalo, Özgür Kirbiyik, Martin Zenker, Muhittin Çelik, Sinan Uslu
Publikováno v:
Journal of Clinical Neonatology. 6:179
Johanson–Blizzard syndrome (JBS) is a rare autosomal recessive disorder, characterized by exocrine pancreatic deficiency and a wide range of other abnormalities. Here, we present an infant with failure to thrive, exocrine pancreatic deficiency, dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd7b4a53bbeb958f4af4aeb0c030598d
https://doi.org/10.4103/jcn.jcn_204_15
https://doi.org/10.4103/jcn.jcn_204_15
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
Autor:
Jan Maarten Cobben, Nienke E. Verbeek, Markus M. Lerch, Fowzan S. Alkuraya, Manuel Oltra Benavent, Celina Guzman, Nima Rezaei, Abdullah Alrajoudi, Özgür Kirbiyik, Martin Zenker, Charu Deshpande, Carlos A. Venegas-Vega, Prajnya Ranganath, Fouad Ali, Marie-Claude Addor, Erick Richmond, Eva-Lena Stattin, Lynette A. Gillis, Débora Romeo Bertola, David B. Everman, Klaus-Michael Keller, Maja Sukalo, Gesche Düker, Clara D.M. van Karnebeek, Heiko Witt, Zhifeng Liu, Julia Mayerle, Jiad N. Mcheik, Crésio Alves, Bita Bozorgmehr, Stephanie Spranger, Amy Shealy, Ankur Singh, Koumudi Godbole, Ariane Fiedler, Jan Liebelt, Gonul Ogur, Carsten Bergmann
Publikováno v:
HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation, 35(5), 521-531. Wiley-Liss Inc.
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation, 35(5), 521-531. Wiley-Liss Inc.
Bertola, Debora/0000-0002-4701-6777; Rezaei, Nima/0000-0002-3836-1827; Lerch, Markus M./0000-0002-9643-8263; Richmond, Erick/0000-0001-9946-3686; Mayerle, Julia/0000-0002-3666-6459 WOS: 000334658800003 PubMed: 24599544 Johanson-Blizzard syndrome (JBS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a0afa1a5856c41c1115b1d93d74dc5
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8918
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8918
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
Publikováno v:
Revista de Nefrología, Diálisis y Trasplante, Vol 39, Iss 2, Pp 120-125 (2019)
Alport syndrome, also known as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. It is caused by mutations in genes encoding several members
Externí odkaz:
https://doaj.org/article/7405bce1f3ea44cca7a9e906623d10bb
Autor:
Altug Koc, Ozge Ozer Kaya, Berk Ozyilmaz, Yasar B. Kutbay, Ozgur Kirbiyik, Taha R. Ozdemir, Kadri M. Erdogan, Merve Saka Guvenc, Deniz C. Oztekin, Mehmet Ozeren, Halil G. Pala, Atalay Ekin, Cenk Gezer, Alkim G. Sahingoz Yildirim, Bahar Konuralp Atakul, Secil Kurtulmus, Ugur Turhan, Cuneyt E. Taner
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background Next‐generation sequencing (NGS) and discovery of fetal cell‐free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidi
Externí odkaz:
https://doaj.org/article/64aa45006b664fc4a1c3f66f8b9cc2f2
Autor:
Baris Malbora, Ozgur Kirbiyik
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 2, Iss 3, Pp 68-70 (2017)
Hemophilia A is an X-linked recessive disorder characterized by congenital deficiency of factor VIII. Mostly, males are affected. Cases of hemophilia A are unusual in females but can result from certain genetic mechanisms. The severity of bleeding in
Externí odkaz:
https://doaj.org/article/ea981ca7c5c74b0ebb0d8b1cfd0b85c8