Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Mutluay, Arslan"'
Publikováno v:
JCRPE, Vol 13, Iss 4, Pp 452-455 (2021)
Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorde
Externí odkaz:
https://doaj.org/article/027c57406003485e89453a93e2924fd3
Autor:
Sara Capiau, Joél Smet, Boel De Paepe, Yilmaz Yildiz, Mutluay Arslan, Olivier Stevens, Maxime Verschoore, Hedwig Stepman, Sara Seneca, Arnaud Vanlander
Publikováno v:
Cells, Vol 11, Iss 3, p 489 (2022)
Human mitochondrial disease exhibits large variation of clinical phenotypes, even in patients with the same causative gene defect. We illustrate this heterogeneity by confronting clinical and biochemical data of two patients with the uncommon pathoge
Externí odkaz:
https://doaj.org/article/1f837d116821465b805ab9b219fbb9b7
Autor:
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L. Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Deniz Torun, Mutluay Arslan, Mathilde F. Lauridsen, Oliver Murch, Rachel Irving, Sally A. Lynch, Sarju G. Mehta, Jenny Carmichael, Evelien Zonneveld‐Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M. Johannesen, Ian T. Westphall, Susan S. Hughes, Sarah Smithson, Julie Evans, Tracy Dudding‐Byth, Marleen Simon, Ellen van Binsbergen, Johanna C. Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S. Møller, Guido Rubboli, Allan Bayat
Publikováno v:
Clinical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3bbe81845531971b838532baa46dff9c
https://doi.org/10.1111/cge.14353
https://doi.org/10.1111/cge.14353
Publikováno v:
Volume: 24, Issue: 1 73-82
Kırıkkale Üniversitesi Tıp Fakültesi Dergisi
Kırıkkale Üniversitesi Tıp Fakültesi Dergisi
Amaç: Bu çalışmanın amacı, serebral palsili adölesan bireylerde fiziksel aktivite ve fiziksel uygunluk seviyelerinin değerlendirilmesidir.Gereç ve Yöntemler: Kırk adölesan (20’si serebral palsili, 20’si sağlıklı adölesan) çalış
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae1c59c15580c6e7d20a5f14bddfd06
https://doi.org/10.24938/kutfd.1009538
https://doi.org/10.24938/kutfd.1009538
Autor:
Canan ÜSTÜN, Mutluay ARSLAN
Publikováno v:
Turkish Journal of Pediatric Disease. :1-5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb3b64b80c06ce23c4ac3ab5e99841bd
https://doi.org/10.12956/tchd.984636
https://doi.org/10.12956/tchd.984636
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:
American Journal of Medical Genetics Part A. 185:1554-1560
POU3F3 proteins are eukaryotic transcription factors and contribute to the processes in the development of brain and kidney. Pathogenic POU3F3 variants cause a neurodevelopmental disorder called Snijders Blok-Fisher syndrome (SNIBFIS). This article r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10fcc30d2a8c503394262b86fc10205d
https://doi.org/10.1002/ajmg.a.62135
https://doi.org/10.1002/ajmg.a.62135
Publikováno v:
Journal of Nutrition and Dietetics. :1-10
Amaç: Epilepsi beynin kortikal ve subkortikal bölgelerindeki nöronların uyarımında artma sonucu meydana gelen, anormal bir elektrik yayılımı ile tekrarlayan nöbetlerin oluştuğu klinik bir tablodur. Birçok çalışma, fazla kilo ve obezit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a0051bece58e03c45f183c3f7a72be3
https://doi.org/10.33076/2020.bdd.1296
https://doi.org/10.33076/2020.bdd.1296
Autor:
Sara, Capiau, Joél, Smet, Boel, De Paepe, Yilmaz, Yildiz, Mutluay, Arslan, Olivier, Stevens, Maxime, Verschoore, Hedwig, Stepman, Sara, Seneca, Arnaud, Vanlander
Publikováno v:
Cells. 11(3)
Human mitochondrial disease exhibits large variation of clinical phenotypes, even in patients with the same causative gene defect. We illustrate this heterogeneity by confronting clinical and biochemical data of two patients with the uncommon pathoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1a8531af8285fd0fb29fb56b481cd9a8
https://pubmed.ncbi.nlm.nih.gov/35159298
https://pubmed.ncbi.nlm.nih.gov/35159298
Publikováno v:
Journal of Pediatric Genetics.
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes, usually occurring in the first 6 months of life. Here, we present a newborn, which was admitted with epileptic seizure on the postnatal second day of life. Sepsis and meningitis were r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd010210235ea1cd78b0a84182fe7aff
https://doi.org/10.1055/s-0041-1727175
https://doi.org/10.1055/s-0041-1727175