Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Gülen Eda UTİNE"'
Autor:
Tuğba Daşar, Sandra Donkervoort, Pelin Özlem Şimşek Kiper, Rahşan Göçmen, Gülen Eda Utine, Koray Boduroğlu, Carsten Bonnemann, Göknur Haliloğlu
Publikováno v:
Journal of Pediatric Research, Vol 9, Iss 3, Pp 297-301 (2022)
Ehlers Danlos syndrome musculocontractural type (mcEDS) is a rare hereditary connective tissue disorder caused by biallelic pathogenic variants in the CHST14 or dermatan sulfate (DS) epimerase genes resulting in defective DS biosynthesis. It is chara
Externí odkaz:
https://doaj.org/article/b1c968dd33114e93b6ec83486f24e60d
Publikováno v:
Türk Oftalmoloji Dergisi, Vol 51, Iss 2, Pp 107-113 (2021)
Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. It can be diagnosed at birth or during the first year of life. Early diagnosis and treatment are crucial for the visual prognosis. It can be associated
Externí odkaz:
https://doaj.org/article/d2b397e66ea8434cb706a206f81059ab
Autor:
Gülen Eda Utine, Yasemin Alanay, Dilek Aktaş, Koray Boduroğlu, Mehmet Alikaşifoğlu, Ergül Tunçbilek
Publikováno v:
Journal of Pediatric Research, Vol 4, Iss 2, Pp 63-67 (2017)
Aim: Gorlin syndrome is an autosomal dominant disorder characterized by cutaneous basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. Predisposition to certain types of cancers is among the main features of the disease. Chromosome
Externí odkaz:
https://doaj.org/article/3d949a63ce1549af89babbf3e9d713a7
Autor:
Canan Aslı Utine, Gülen Eda Utine
Publikováno v:
Türk Oftalmoloji Dergisi, Vol 42, Iss 5, Pp 370-377 (2012)
After it was shown in the latter half of the last century that the genes are located on the chromosomes and the nucleic acid has a doublehelical configuration, there have been significant developments in the clinical use of genetic science. The gene
Externí odkaz:
https://doaj.org/article/d12cc139fc394ec7addc5b0c6e07c8ff
Autor:
Canan Aslı Utine, Gülen Eda Utine
Publikováno v:
Türk Oftalmoloji Dergisi, Vol 42, Iss 5, Pp 378-385 (2012)
Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the f
Externí odkaz:
https://doaj.org/article/8e29c47501404a01810ee76f460ecffe
Publikováno v:
Türk Oftalmoloji Dergisi, Vol 46, Iss 6, Pp 299-300 (2016)
To the Editor: Genetic eye diseases constitute a large and heterogeneous group. Individual diseases may cause multiple structural/functional anomalies and developmental features. Family history may be suggestive; however, it may also be challengin
Externí odkaz:
https://doaj.org/article/5d2781b7b1fe49edba31f82e52f70038
Autor:
Naz Güleray Lafcı, Beren Karaosmanoglu, Ekim Z. Taskiran, Pelin Ozlem Simsek-Kiper, Gülen Eda Utine
Publikováno v:
Molecular Syndromology. :1-8
Introduction: Mowat-Wilson syndrome (MWS) is an autosomal-dominant complex developmental disorder characterized by distinctive facial appearance, intellectual disability, epilepsy, and various clinically heterogeneous abnormalities reminiscent of neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f5f1f272debf96320a9c7f8f65e4c70
https://doi.org/10.1159/000528769
https://doi.org/10.1159/000528769
Autor:
Engin Demir, Ceyda Tuna Kirsaçlioğlu, İnci Nur Saltik-Temizel, Gizem Ürel-Demir, Beren Karaosmanoğlu, Ekim Zihni Taşkiran, Pelin Özlem Şimşek-Kiper, Gülen Eda Utine, Zarife Kuloğlu, Aydan Kansu
Publikováno v:
Clinical Dysmorphology. 32:88-91
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40a99b3c285e52e23a98d98fa7171c75
https://doi.org/10.1097/mcd.0000000000000451
https://doi.org/10.1097/mcd.0000000000000451
Autor:
Hande Üçler Çınar, Melis Pehlivantürk Kızılkan, Akçahan Akalın, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Orhan Derman, Nuray Kanbur, Sinem Akgül
Publikováno v:
Journal of Pediatric and Adolescent Gynecology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::977b4b55f0a669b8fabdfbc56acd9515
https://doi.org/10.1016/j.jpag.2023.02.005
https://doi.org/10.1016/j.jpag.2023.02.005
Autor:
Burak Karakök, Devrim Akdemir, Sıddıka Yalçın, Hacer Seniz Özusta, Gülen Eda Utine, Özlem Doğan, Pelin Özlem Şimşek Kiper, Gizem Ürel Demir
Publikováno v:
Güncel Pediatri. 19:363-372
Introduction: The aim of this study is to compare neurocognitive and psychosocial characteristics in adolescents with Turner Syndrome (TS) and age-matched adolescents with short stature (SS) and normal karyotypes. Materials and Methods: Seven patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93eeb9dea197f8a2a53a76888667d6e7
https://doi.org/10.4274/jcp.2021.04864
https://doi.org/10.4274/jcp.2021.04864