Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Edibe Pembegül, Yıldız"'
Autor:
Serap Karaman, Şifa Şahin, Edibe Pembegül Yıldız, Hikmet Gülşah Tanyıldız, Mehmet Barburoğlu, Tutku Turgut, Yasin Yılmaz, Zeynep Karakaş, Deniz Tuğcu, Ayşegül Ünüvar
Publikováno v:
Hematology, Transfusion and Cell Therapy, Vol 44, Iss , Pp S43- (2022)
Introduction: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder. NF-1 vasculopathy is a significant complication of the disease. It affects both arterial and venous blood vessels of all sizes. Also Moyamoya syn
Externí odkaz:
https://doaj.org/article/b07cf4caf4d54ed5be7db4a2086bdcb2
Autor:
Arzu Selamioğlu, Meryem Karaca, Mehmet Cihan Balcı, Hüseyin Kutay Körbeyli, Aslı Durmuş, Edibe Pembegül Yıldız, Serap Karaman, Gülden Fatma Gökçay
Publikováno v:
Molecular Syndromology. :1-8
Introduction: Chronic haemolytic anaemia, increased susceptibility to infections, cardiomyopathy, neurodegeneration, and death in early childhood are the clinical findings of triosephosphate isomerase (TPI) deficiency, which is an ultra-rare disorder
Publikováno v:
Çocuk Dergisi / Journal of Child. 22:117-123
Autor:
Osman Kipoğlu, Burçin Karacabey, Orhan Coşkun, Mehmet Barburoğlu, Edibe Pembegül Yıldız, Nur Aydınlı, Meliha Çalışkan
Publikováno v:
Çocuk Dergisi / Journal of Child. 22:248-250
Autor:
Burçin Nazlı Karacabey, Zuhal Bayramoğlu, Orhan Coşkun, Zeynep Nur Akyol Sarı, Melis Ulak Özkan, Edibe Pembegül Yıldız, Nur Aydınlı, Mine Çalışkan
Publikováno v:
Neuropediatrics.
Introduction This study aimed to investigate selective muscle involvement by shear wave elastography (SWE) in patients with spinal muscular atrophy (SMA) types 2 and 3 and to compare SWE values with magnetic resonance imaging (MRI) in demonstrating m
Autor:
Burcin Nazli Karacabey, Orhan Coskun, Meliha Mine Caliskan, Edibe Pembegül Yıldız, Mehmet Akif Kilic, Osman Kipoglu, Nur Aydınlı, Ahmet Yesilyurt
Publikováno v:
Brain and Development. 43:1039-1043
In recent years, with advances in molecular genetics, many new mutations with various ataxic syndromes have been identified. Recently, homozygous sequestosome 1 (SQSTM1) gene variant with a progressive childhood-onset cerebellar ataxia, dystonia and
Autor:
Ünsal Yılmaz, Kıvılcım Gücüyener, Merve Yavuz, İbrahim Öncel, Mehmet Canpolat, Sema Saltık, Olcay Ünver, Ayşegül Neşe Çıtak Kurt, Ayşe Tosun, Sanem Yılmaz, Bilge Özgör, İlknur Erol, Ülkühan Öztoprak, Duygu Aykol Elitez, Meltem Çobanoğulları Direk, Muhittin Bodur, Serap Teber, Banu Anlar, Sema Saltik, Duygu Aykol, Edibe Pembegül Yıldız, Coşkun Yarar, Bülent Kara, Şenay Haspolat, Faruk İncecik, Gültekin Kutluk, Cengiz Dilber, Nihal Olgac Dundar, Hüseyin Tan, Ercan Demir, Büşra Daşlı Dursun, Tuğçe Damla Dilek, Dilşad Türkdoğan, Dilek Yalnızoğlu, Salih Akbaş, Ayten Güleç, Deniz Yılmaz, Müge Ayanoğlu, Seda Kanmaz, Serdal Güngör, Gülten Öztürk, Şeyda Beşen, Göknur Haliloğlu, Nazlı Balcan Karaca, Selcan Öztürk, Deniz Yüksel, Esra Gürkaş, Seçil Oktay, Hepsen Mine Serin, Meral Karadağ, İsmail Hakkı Akbeyaz, Uluç Yiş, Burçin Gönüllü Polat, Mehmet Sait Okan, Ömer Bektaş, Leman Tekin Orgun, Ceren Günbey, Hüseyin Per, Pembe Gültutan, Semra Büyükkorkmaz Öztürk, Erhan Aksoy, Gülcan Akyüz, Hasan Tekgül, Fulya Kürekçi, A. Semra Hız Kurul, Kürşat Bora Çarman, Defne Alikılıç, Özgür Duman, Mustafa Kömür, Miraç Yıldırım, Nurettin Alıcı, Hakan Gümüş, Muzaffer Polat, Bahadır Konuşkan, Olcay Güngör, Gülen Gül Mert, Selvinaz Edizer, Filiz Mıhçı, Sedef Terzioğlu Öztürk, Rabia Tütüncü Toker, Mutluay Arslan, Sevim Şahin, Pinar Gencpinar, Elif Yıldırım, Ersin Yüksel, Arzu Ekici, Adnan Deniz, Özlem Yayici Köken, Çetin Okuyaz, Nurşah Yeniay Süt, Ergin Atasoy, İsmail Solmaz, Mehmet Fatih Yetkin, Neslihan Bilgin, Aslı Kübra Atasever, Hande Gazeteci Tekin, İpek Dokurel, Aysima Özçelik, Ayşe Aksoy, Ayşe Nur Türköz, Dilek Cavusoglu, Mehbare Özkan, Emine Tekin, Türkan Uygur Şahin, Aycan Ünalp, Habibe Koç, Esra Sarıgeçili, Serdar Sarıtaş, Senem Ayça, Hülya Kayılıoğlu, Mine Çiğdem Şenoğlu, Tülay Kamaşak, Nargis Asadova, Filiz Keskin, Pakize Karaoğlu, Rojan İpek, Hamit Acer
Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease manda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7189bb594b8e7e139069b7085c4d9385
https://avesis.deu.edu.tr/publication/details/e770a716-7c76-47b6-ae1a-6a20fb66ce13/oai
https://avesis.deu.edu.tr/publication/details/e770a716-7c76-47b6-ae1a-6a20fb66ce13/oai
Publikováno v:
Acta Neurologica Belgica. 122:259-261
Autor:
Asuman Demirbuğa, Esra Yücel, Selda Hançerli Törün, Ayper Somer, Özge Kaba, Edibe Pembegül Yıldız
Publikováno v:
Pediatr Allergy Immunol Pulmonol
Progressive multifocal leukoencephalopathy (PML) is a fatal demyelinating disease of the central nervous system that is caused by John Cunningham virus (JCV). It occurs almost exclusively in immunosuppressed individuals, for example, patients with AI
Autor:
Gonca Bektaş, Mine Çalışkan, Gamze Baskent, Meral Özmen, Melis Ulak Ozkan, Nur Aydınlı, Edibe Pembegül Yıldız
Publikováno v:
Turkish Journal of Pediatric Disease. :1-4
Amac: Duchenne muskuler distrofi (DMD), DMD genindeki mutasyonlarin neden oldugu ilerleyici kas gucsuzlugu ile seyreden bir hastaliktir. Bu calismada, DMD tanili cocuklarda DMD genindeki farkli mutasyonlar ile motor fonksiyonlar arasindaki iliskiyi i