المؤلفون: Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661

المؤلفون: Meryem BADEM, Gamze SARIKAYA UZAN, Semra HIZ KURUL

المصدر: Forbes Tıp Dergisi, Vol 4, Iss 1, Pp 21-27 (2023)

مصطلحات موضوعية: rolandic epilepsy, self-limited epilepsy with centrotemporal spikes, electroencephalography, centrotemporal spike wave discharge, anti-seizure medication, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=forbes&un=FJM-82474; https://doaj.org/toc/2757-5241

URL الوصول: https://doaj.org/article/49471c718af7446ca2efd6393ce3fc51

المؤلفون: Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: Goltz syndrome, Focal dermal hypoplasia, Protein-serine O-palmitoleoyltransferase porcupine, Fibroblast proteomics, Lamin a/c, Connective tissue disorder, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/82ae0241ff1e44fc9314229249815e34

المؤلفون: Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath

المصدر: iScience, Vol 24, Iss 1, Pp 101948- (2021)

مصطلحات موضوعية: Biological Sciences, Neuroscience, Molecular Neuroscience, Clinical Neuroscience, Systems Biology, Protemics, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004220311457; https://doaj.org/toc/2589-0042

URL الوصول: https://doaj.org/article/2e92aa318b974cfabac7dd6e6609004b

المؤلفون: Cavusoglu, Dilek, Ozturk, Gulten, Turkdogan, Dilsad, Kurul, Semra Hiz, Yis, Uluc, Komur, Mustafa, Incecik, Faruk, Kara, Bulent, Sahin, Turkan, Unver, Olcay, Dilber, Cengiz, Mert, Gulen Gul, Gunay, Cagatay, Uzan, Gamze Sarikaya, Ersoy, Ozlem, Oktay, Yavuz, Mermer, Serdar, Tuncer, Gokcen Oz, Gungor, Olcay, Ozcora, Gul Demet Kaya, Gumus, Ugur, Sezer, Ozlem, Cetin, Gokhan Ozan, Demir, Fatma, Yilmaz, Arzu, Gurbuz, Gurkan, Topcu, Meral, Topaloglu, Haluk, Ceylan, Ahmet Cevdet, Ceylaner, Serdar, Gleeson, Joseph G., Icagasioglu, Dilara Fusun, Sonmez, F. Mujgan^{Aff24, Aff25, Aff26, IDs12311024016901_cor33}

المصدر: The Cerebellum. :1-16

المؤلفون: Yasemin Topçu, Erhan Bayram, Pakize Karaoglu, Uluç Yis, Semra Hiz Kurul

المصدر: Annals of Indian Academy of Neurology, Vol 17, Iss 4, Pp 437-440 (2014)

مصطلحات موضوعية: Carnitine palmitoyltransferase II deficiency, recurrent rhabdomyolysis, acylcarnitine profile, very long-chain acyl-CoA dehydrogenase deficiency, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=4;spage=437;epage=440;aulast=Topçu; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/d289a6f132c1470fa2dca2f7bbc3384a

المؤلفون: Yasemin Topcu, Erhan Bayram, Pakize Karaoglu, Uluc Yis, Semra Hiz Kurul

المصدر: Annals of Indian Academy of Neurology, Vol 16, Iss 4, Pp 716-719 (2013)

مصطلحات موضوعية: Agenesis of corpus callosum, Shapiro′s syndrome, vomiting, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=4;spage=716;epage=719;aulast=Topcu; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/16c5916f54304100bf72ab29fd43e221

المؤلفون: Erhan Bayram, Yasemin Topcu, Gulcin Akinci, Semra Hiz, Handan Cakmakci

المصدر: Annals of Saudi Medicine, Vol 33, Iss 1, Pp 73-75 (2013)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0256-4947; https://doaj.org/toc/0975-4466

URL الوصول: https://doaj.org/article/f8081508666f4983935612baf9ef1daa

المؤلفون: Direk, Meltem Çobanoğulları, Besen, Şeyda, Öncel, İbrahim, Günbey, Ceren, Özdoğan, Orhan, Orgun, Leman Tekin, Sahin, Sevim, Cansu, Ali, Yıldız, Nihal, Kanmaz, Seda, Yılmaz, Sanem, Tekgül, Hasan, Türkdoğan, Dilşad, Ünver, Olcay, Thomas, Gülten Öztürk, Başıbüyük, Salih, Yılmaz, Deniz, Kurt, Ayşegül Neşe, Gültutan, Pembe, Özsoy, Özlem, Yiş, Uluç, Kurul, Semra Hız, Güngör, Serdal, Özgör, Bilge, Karadağ, Meral, Dündar, Nihal Olgaç, Gençpınar, Pınar, Bildik, Olgay, Orak, Sibğatullah Ali, Kabur, Çişil Çerçi, Kara, Bülent, Karaca, Ömer, Canpolat, Mehmet, Gümüş, Hakan, Per, Hüseyin, Yılmaz, Ünsal, Karaoğlu, Pakize, Ersoy, Özlem, Tosun, Ayşe, Öztürk, Semra Büyükkorkmaz, Yüksel, Deniz, Atasoy, Ergin, Gücüyener, Kıvılcım, Yıldırım, Miraç, Bektaş, Ömer, Çavuşoğlu, Dilek, Yarar, Çoşkun, Güngör, Olcay, Mert, Gülen Gül, Sarıgeçili, Esra, Edizer, Selvinaz, Çetin, İpek Dokurel, Aydın, Seren, Diler, Betül, Özdemir, Asena Ayça, Erol, İlknur, Okuyaz, Çetin, Anlar, Banu

المصدر: In Multiple Sclerosis and Related Disorders January 2024 81

المؤلفون: Chelban, Viorica^{Aff1, Aff2, IDs41467024463540_cor1}, Aksnes, Henriette^{Aff3, IDs41467024463540_cor2}, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M. Natalia, Kaiyrzhanov, Rauan^{Aff1, Aff11}, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V.^{Aff1, Aff12, Aff13}, Morsy, Heba^{Aff1, Aff14}, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina^{Aff3, Aff16}, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés^{Aff18, Aff19}, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu^{Aff21, Aff22, Aff23}, Cretin, Benjamin^{Aff21, Aff22, Aff23}, Vona, Barbara^{Aff24, Aff25}, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns^{Aff31, Aff32, Aff33}, Da’as, Sahar I.^{Aff34, Aff35}, Fakhro, Khalid A.^{Aff34, Aff35, Aff36}, Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W.^{Aff8, Aff38}, Horvath, Rita, Ernst, Andreas M.^{Aff4, Aff40}, Rothman, James E.^{Aff4, Aff10}, McEntagart, Meriel, Crow, Yanick J.^{Aff5, Aff42}, Alkuraya, Fowzan S.^{Aff7, Aff43}, Nicolas, Gaël, Arnesen, Thomas^{Aff3, Aff44, IDs41467024463540_cor59}, Houlden, Henry^{Aff1, Aff38, IDs41467024463540_cor60}

المصدر: Nature Communications. 15(1)