Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Kaçar Bayram, A."'
Autor:
KAÇAR BAYRAM, Ayşe1,2 draysebayram@gmail.com, PAKETÇİ, Ahu3, ŞAHBAZ, Melek Nur1, DAŞDELEN, Sevde1, KOCA, Serkan Bilge3
Publikováno v:
Turkish Journal of Medical Sciences. 2024, Vol. 54 Issue 1, p301-308. 8p.
Autor:
Kacar Bayram, Ayse, Yan, Qi, Isitan, Cigdem, Rao, Shilpa, Spencer, Dennis D., Alkawadri, Rafeed
Publikováno v:
In Epilepsy & Behavior May 2021 118
Autor:
Pembe Soylu Üstkoyuncu, Mustafa Kendirci, Songül Gökay, Fatih Kardaş, Hakan Gümüş, Hüseyin Per, Hatice Gamze Poyrazoğlu, Ayşe Kaçar Bayram, Mehmet Canpolat, Sefer Kumandaş
Publikováno v:
Türk Nöroloji Dergisi, Vol 26, Iss 3, Pp 250-252 (2020)
Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation, difficulty of walking, and progressive tiptoeing. Laboratory investigations revealed mildly elevate
Externí odkaz:
https://doaj.org/article/503933fff92c43379d331ccc28772cd4
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
Autor:
Wang, Haicui, Castiglioni, Claudia, Kaçar Bayram, Ayşe, Fattori, Fabiana, Pekuz, Serdar, Araneda, Diego, Per, Hüseyin, Erazo, Ricardo, Gümüş, Hakan, Zorludemir, Suzan, Becker, Kerstin, Ortega, Ximena, Bevilacqua, Jorge Alfredo, Bertini, Enrico, Cirak, Sebahattin *
Publikováno v:
In Neuromuscular Disorders September 2017 27(9):836-842
Autor:
Veysel Gök, Gülsüm Gümüş, Habibe Selver Durmuş, Ekrem Ünal, Hakan Gümüş, Musa Karakükcü, Ayşe Kaçar Bayram, Hüseyin Per
Publikováno v:
Trends in Pediatrics. 3:120-125
Autor:
Haicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, Ozkan Ozdemir, Emily Cooper, Matthias Pergande, Stephanie Efthymiou, Ivana Nedic, Neda Mazaheri, Katharina Stumpfe, Reza Azizi Malamiri, Gholamreza Shariati, Jawaher Zeighami, Nurettin Bayram, Seyed Kianoosh Naghibzadeh, Mohamad Tajik, Mehmet Yaşar, Ahmet Sami Güven, Farah Bibi, Tipu Sultan, Vincenzo Salpietro, Henry Houlden, Hüseyin Per, Hamid Galehdari, Bita Shalbafan, Yalda Jamshidi, Sebahattin Cirak
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein i
Externí odkaz:
https://doaj.org/article/af45cf4def1647cbbe24bfce1e5d146f
Publikováno v:
Journal of Neuroimaging. 31:1184-1191
Background and purpose Dueto motion artifacts, optic nerve (ON) findings of idiopathic intracranial hypertension (IIH) can easily be overlooked on T2-weighted (T2w) turbo spin-echo sequence. This study aimed to investigate the contribution of the app
Autor:
Feyza Esen, Yılmaz Seçilmiş, Mehmet Adnan Ozturk, Aydın Esen, Ayşe Kaçar Bayram, Filiz Tubas, Selma Gokahmetoglu, Murat Doğan
Publikováno v:
Journal of Pediatric Infectious Diseases. 16:200-204
Objective The most common childhood convulsive disorder happens to be febrile seizure (FS), which is an important health problem leading to economic burden and parental anxiety. Further investigation into the etiological causes of FS will guide us fo
Autor:
Nurettin Bayram, Ahmet Okay Caglayan, Hüseyin Per, Cemal Ozsaygili, Mehmet Said Doğan, Hakan Gümüş, Ayşe Kaçar Bayram
Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf16aa1acae109aba71ba9f0c1f6c54c
https://avesis.kayseri.edu.tr/publication/details/a50ab6a7-3faa-4126-adfe-4d2d26c2ba30/oai
https://avesis.kayseri.edu.tr/publication/details/a50ab6a7-3faa-4126-adfe-4d2d26c2ba30/oai
Autor:
Heinz Jungbluth, Cemal Ozsaygili, Emine Pangal, Hormos Salimi Dafsari, Hüseyin Per, İsa Yuvacı, Nurettin Bayram, Hülya Sevcan Daimagüler, Selim Doganay, Ayşe Kaçar Bayram, Hakan Gümüş, Gökhan Uyanik, Daniel Bamborschke, Murat Erdogan, Sebahattin Cirak
Publikováno v:
European Journal of Ophthalmology. 32:NP92-NP97
Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients’ ocular manifestations to provide a basis for future clinical trials and improve MSS patien