Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Metin Eser"'
Autor:
Metin Eser, Akif Ayaz
Publikováno v:
Balkan Medical Journal, Vol 35, Iss 3, Pp 272-274 (2018)
Background: Ovotesticular disorder is characterized by the presence of testicular and ovarian tissues in the same individual. Single gene mutations in SRY, SOX9, DMRT1 and DAX1 can lead to ovotesticular disorder of sexual development. Case Report: H
Externí odkaz:
https://doaj.org/article/7d5f888a04064c6eacc936142a2d33ee
Autor:
Emine Uslu Yurter, Volkan Alparslan, Mehmet Serindere, Mücteba Enes Yayla, Metin Eser, Leyla Batmaz, Dilşa Mizrak Kaya
Publikováno v:
Journal of Ankara University Faculty of Medicine. 75:400-405
Autor:
Fatma Dursun, Hulya Maras Genc, Ayşe Mine Yılmaz, Ibrahim Tas, Metin Eser, Cemile Pehlivanoglu, Betul Karademir Yilmaz, Tulay Guran
Publikováno v:
European Journal of Endocrinology. 187:K27-K32
Background Biallelic QRSL1 mutations cause mitochondrial ‘combined oxidative phosphorylation deficiency-40’ (COXPD40). COXPD40 has been reported to be invariably lethal in infancy. Adrenal insufficiency was weakly reported and investigated among
Autor:
Royala Babayeva, Cedric Mongellaz, Ibrahim Serhat Karakus, Murat Cansever, Sevgi Bilgic Eltan, Mehmet Cihangir Catak, Alper Bulutoglu, Yasemin Kendir Demirkol, Metin Eser, Elif Karakoc‐Aydiner, Ahmet Ozen, Valérie S. Zimmermann, Naomi Taylor, Safa Baris
Publikováno v:
Pediatric Allergy and Immunology. 33
Patients with deficiency of zeta-chain-associated protein kinase 70 (ZAP-70) protein generally present as combined immunodeficiency (CID) with severe recurrent infections and dermatological findings during the first years of life. They also suffer fr
Autor:
null Royala Babayeva, null Cedric Mongellaz, null Ibrahim Serhat Karakus, null Murat Cansever, null Sevgi Bilgic Eltan, null Mehmet Cihangir Catak, null Alper Bulutoglu, null Yasemin Kendir Demirkol, null Metin Eser, null Elif Karakoc‐Aydiner, null Ahmet Ozen, null Valérie S. Zimmermann, null Naomi Taylor, null Safa Baris
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f4951ca807c26d607ee9f8bd2980f5d
https://doi.org/10.1111/pai.13756/v2/response1
https://doi.org/10.1111/pai.13756/v2/response1
Autor:
Tuğçe Aksu Uzunhan, Biray Ertürk, Kürşad Aydın, Akif Ayaz, Umut Altunoğlu, Murat Hakkı Yarar, Alper Gezdirici, Dilara Füsun İçağasıoğlu, Ezgi Gökpınar İli, Bülent Uyanık, Metin Eser, Yaşar Bekir Kutbay, Yasemin Topçu, Betül Kılıç, Gonca Bektaş, Ayfer Arduç Akçay, Barış Ekici, Amet Chousein, Şahin Avcı, Atıl Yüksel, Hülya Kayserili
Publikováno v:
Clinical Neurology and Neurosurgery. 224:107560
© 2022 Elsevier B.V.Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrom
Publikováno v:
Seizure. 88
Objective : The coexistence of epilepsy in familial hemiplegic migraine (FHM) has not been reviewed systematically. We investigated the associations of epilepsy in patients with FHM with CACNA1A, ATP1A2, SCN1A or PRRT2 mutations along with clinical a
Autor:
Metin Eser, Akif Ayaz
Publikováno v:
Pamukkale Medical Journal. 11:85-88
Publikováno v:
The Turkish journal of pediatrics. 59(5)
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately
Autor:
Ali Topak, Ozge Ozalp Yuregir, Akif Ayaz, Kanay Yararbas, Sinem Yalcintepe, Metin Eser, Tamer Celik
Publikováno v:
Clinical dysmorphology. 27(3)