학술논문
'학술논문'
에서 검색결과 352건 | 목록
1~10
Academic Journal
Loução, Ricardo; Burkhardt, Julia; Wirths, Jochen; Kabbasch, Christoph; Dembek, Till A.; Heiden, Petra; Cirak, Sebahattin; Al-Fatly, Bassam; Treuer, Harald; Visser-Vandewalle, Veerle; Hoevels, Mauritius; Koy, Anne
In NeuroImage 15 February 2024 287
The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature
Academic Journal
Fazeli, Walid; Bamborschke, Daniel; Moawia, Abubakar; Bakhtiari, Somayeh; Tafakhori, Abbas; Giersdorf, Matthias; Hahn, Andreas; Weik, Anja; Kolzter, Kirsten; Shafiee, Sajad; Jin, Sheng Chih; Körber, Friederike; Lee-Kirsch, Min Ae; Darvish, Hossein; Cirak, Sebahattin; Kruer, Michael C.; Koy, Anne
In European Journal of Paediatric Neurology January 2022 36:7-13
Academic Journal
Günbey, Ceren; Çavdarlı, Büşranur; Göçmen, Rahşan; Yazıcı, Muharrem; Temuçin, Çağrı Mesut; Özdemir, Özkan; Çırak, Sebahattin; Haliloğlu, Göknur
Academic Journal
Koy, Anne; Cirak, Sebahattin; Gonzalez, Victoria; Becker, Kerstin; Roujeau, Thomas; Milesi, Christophe; Baleine, Julien; Cambonie, Gilles; Boularan, Alain; Greco, Frederic; Perrigault, Pierre-Francois; Cances, Claude; Dorison, Nathalie; Doummar, Diane; Roubertie, Agathe; Beroud, Christophe; Körber, Friederike; Stüve, Burkhard; Waltz, Stephan; Mignot, Cyril; Nava, Caroline; Maarouf, Mohammad; Coubes, Philippe; Cif, Laura
In Journal of the Neurological Sciences 15 August 2018 391:31-39
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
Academic Journal
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
In Neuromuscular Disorders September 2017 27(9):836-842
Periodical
Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiß, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Kölbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A.; Baumann, Matthias; Köhler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkölbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Gläser, Dieter; Bernert, Günther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmüller, Hanns; Müller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C.; Kirschner, Janbernd; Pechmann, Astrid
JAMA Pediatrics; June 2024, Vol. 178 Issue: 6 p540-547, 8p
Academic Journal
Chamova, Teodora ; Guergueltcheva, Velina; Gospodinova, Mariana; Krause, Sabine; Cirak, Sebahattin; Kaprelyan, Ara; Angelova, Lyudmila; Mihaylova, Violeta; Bichev, Stoyan; Chandler, David; Naydenov, Emanuil; Grudkova, Margarita; Djukmedzhiev, Presian; Voit, Thomas; Pogoryelova, Oksana; Lochmüller, Hanns; Goebel, Hans H.; Bahlo, Melanie; Kalaydjieva, Luba; Tournev, Ivailo
In Neuromuscular Disorders September 2015 25(9):713-718
Academic Journal
Quinlivan, Ros; Mitsuahashi, Satomi; Sewry, Caroline; Cirak, Sebahattin; Aoyama, Chieko; Mooore, David; Abbs, Stephen; Robb, Stephanie; Newton, Tina; Moss, Celia; Birchall, Daniel; Sugimoto, Hiroyuki; Bushby, Kate; Guglieri, Michela; Muntoni, Francesco; Nishino, Ichizo; Straub, Volker
In Neuromuscular Disorders July 2013 23(7):549-556
Academic Journal
Thiel, Moritz; Bamborschke, Daniel; Janzarik, Wibke G.; Assmann, Birgit; Zittel, Simone; Patzer, Steffi; Auhuber, Andrea; Opp, Joachim; Matzker, Eva; Bevot, Andrea; Seeger, Juergen; van Baalen, Andreas; Stüve, Burkhard; Brockmann, Knut; Cirak, Sebahattin; Koy, Anne
Journal of Neurology, Neurosurgery & Psychiatry; Oct2023, Vol. 94 Issue 10, p806-815, 10p
Academic Journal
Yis, Uluc; Uyanik, Gökhan; Heck, Pinar Bambul; Smitka, Martin; Nobel, Hannes; Ebinger, Friedrich; Dirik, Eray; Feng, Lucy; Kurul, Semra H.; Brocke, Katja; Unalp, Aycan; Özer, Erdener; Cakmakci, Handan; Sewry, Caroline; Cirak, Sebahattin; Muntoni, Francesco; Hehr, Ute; Morris-Rosendahl, Deborah J.
In Neuromuscular Disorders 2011 21(1):20-30
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