Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Özlem Yayici, Köken"'
Autor:
Büşranur, Çavdarlı, Özlem Yayici, Köken, Saide Betül Arslan, Satılmış, Şule, Bilen, Didem, Ardıçlı, Ahmet Cevdet, Ceylan, Cavidan Nur Semerci, Gündüz, Haluk, Topaloğlu
Publikováno v:
Annals of Human Genetics. 87:104-114
Muscular dystrophies are a heterogeneous group of neuromuscular disorders with a wide range of the clinical and genetic spectrum. Whole-exome sequencing (WES) has been on the rise to become the usual method of choice for molecular diagnosis in patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6adb22957c3e7845807875a0fb20f423
https://doi.org/10.1111/ahg.12492
https://doi.org/10.1111/ahg.12492
Publikováno v:
Turkish Journal of Pediatric Disease. :1-7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0cc145e9de8a7e9cafc1b540104e34f
https://doi.org/10.12956/tchd.974974
https://doi.org/10.12956/tchd.974974
Publikováno v:
Molecular Syndromology. 13:159-164
In this study, we report the first known Turkish case of a novel nonsense mutation c.2453dupT (p.M818fs*28) in the KMT2B (NM_014727.2) gene diagnosed in a male patient with KMT2B-related dystonia (DYT-KMT2B, DYT-28, Dystonia*-28), which is a complex,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98b2af17fb7041091655199b5c54520b
https://doi.org/10.1159/000518974
https://doi.org/10.1159/000518974
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
Autor:
Çağrı Mesut Temuçin, Deniz Yuksel, Ülkühan Öztoprak, Özlem Yayici Köken, Vehap Topcu, Hulya Kayilioglu, Özge Dedeoglu Toptas, Ustun Aydingoz, Busranur Cavdarli
Publikováno v:
Neurology Asia. 26:607-612
Autosomal recessive intermediate Charcot Marie Tooth (CMT) disease type C is a very rarely-seen neurogenetic disorder. Homozygous or compound heterozygous mutation in the Pleckstrin homology domain-containing family G member 5 (PLEKHG5) gene on chrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9be0e356e730a3ce68b2875b0586512d
https://doi.org/10.54029/2021jmr
https://doi.org/10.54029/2021jmr
Autor:
Merve Sibel Güngören, E. Gurkas, Gülsüm İclal Bayhan, Özlem Yayici Köken, Pembe Gultutan, Ayşegül Neşe Çıtak Kurt, Hamit Ozyurek, Deniz Yilmaz
Publikováno v:
Turkish Journal of Medical Sciences
Background/aim This study aimed to analyze the serum melatonin levels and changes in sleep patterns in pediatric patients with coronavirus disease 2019 (COVID-19). Materials and methods This study was designed as a descriptive, cross-sectional study.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0961f775d51513f5c6f89fdbc4a53efb
http://europepmc.org/articles/PMC8569735
http://europepmc.org/articles/PMC8569735
Autor:
Haluk Topaloğlu, Ahmet Cevdet Ceylan, Özlem Yayici Köken, Cavidan Nur Semerci, Büşranur Çavdarli
Publikováno v:
Volume: 15, Issue: 4 319-324
Türkiye Çocuk Hastalıkları Dergisi
Türkiye Çocuk Hastalıkları Dergisi
Objective: Dystrophinopathies are the most frequently researched neuromuscular disease group due to their characteristic and diverse clinical and genetic spectrum. This study aims to evaluate the deletion and duplication profile of the dystrophin gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044d7651e989edb66a0251a938fb4d2d
https://doi.org/10.12956/tchd.913588
https://doi.org/10.12956/tchd.913588
Autor:
Nilden Tuygun, Ayşegül Danış, Erhan Aksoy, Deniz Yüksel, Özlem Yayici Köken, Ayşe Seçil Ekşioğlu, Ülkühan Öztoprak
Publikováno v:
Journal of Pediatric Research, Vol 8, Iss 1, Pp 20-28 (2021)
Aim:The aim of this study is to analyze children with acute carbon monoxide (CO) poisoning and to present two patients with rare neuroradiological findings.Materials and Methods:We identified and reviewed the medical records of pediatric patients dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16967c058edf44addd3b7676531a745f
https://doaj.org/article/abf6ce0d4e304ac491caafcded51cfd7
https://doaj.org/article/abf6ce0d4e304ac491caafcded51cfd7
Publikováno v:
Current Journal of Neurology
Background: The aim of this study was to identify the demographic-clinical variables affecting idiopathic epilepsy (IE) [called genetic generalized epilepsy (GGE)] recurrence and determine cut-off values that can be used in pediatric neurology practi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61a5cb8308a5becbe8cfb1bde54925b6
http://europepmc.org/articles/PMC8743180
http://europepmc.org/articles/PMC8743180
Autor:
Özlem Yayici Köken, Aydan Değerliyurt
Publikováno v:
Volume: 14, Issue: 6 538-546
Türkiye Çocuk Hastalıkları Dergisi
Türkiye Çocuk Hastalıkları Dergisi
Epilepsi çocuklarda en sık karşılaşılan nörolojik sorunlardandır. Özellikle bebeklik ve çocuklukta başlayan bazı epilepsilerde daha sık olarak rastlanan epileptik ensefalopatilerde ise nöbetler ve yoğun epileptiform aktivitelere bağl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e751202b6f46d158912b54fb1c6db58e
https://doi.org/10.12956/tchd.727161
https://doi.org/10.12956/tchd.727161