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1Academic Journal
المؤلفون: Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren, Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan, Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia, Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair, Pennavaria, Ajia, Krogstad, Liv, Bekkelund, Åse, Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten, Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra, Lochmuller, Hanns, Daas, Sahar, Fakhro, Khalid, Gómez-Pascual, Alicia, Botía, Juan, Wood, Nicholas, Horvath, Rita, Ernst, Andreas, Rothman, James, McEntagart, Meriel, Crow, Yanick, Alkuraya, Fowzan, Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry
المصدر: Nature Communications. 15(1)
مصطلحات موضوعية: Humans, Acetylation, Brain, Brain Diseases, Inheritance Patterns, Mutation, Phosphates, Sodium-Phosphate Cotransporter Proteins, Type III
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: 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, Cavusoglu, Dilek, Ozturk, Gulten, Turkdogan, Dilsad, Ceylaner, Serdar, Gleeson, Joseph G, Kurul, Semra Hiz, Icagasioglu, Dilara Fusun, Sonmez, F Mujgan, Yis, ULUÇ, Komur, Mustafa, Incecik, Faruk, Kara, Bulent, Uzan, Gamze Sarikaya, Ersoy, Ozlem, Sahin, Turkan, Unver, Olcay, Dilber, Cengiz, Mert, Gulen Gul, Gunay, Cagatay
Relation: b4fa9a13-ec3b-4b8c-8f4c-58d316415133; https://avesis.deu.edu.tr/publication/details/b4fa9a13-ec3b-4b8c-8f4c-58d316415133/oai
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3Academic Journal
المؤلفون: Güngör, Olcay, Yıldırım, Miraç, BektaÅŸ, Ömer, ÇavuÅŸoÄŸlu, Dilek, Yarar, ÇoÅŸkun, Mert, Gülen Gül, Orak, SibÄŸatullah Ali, Canpolat, Mehmet, Sarıgeçili, Esra, Edizer, Selvinaz, Çetin, Ä°pek Dokurel, Aydın, Seren, Diler, Betül, Özdemir, Asena Ayça, Okuyaz, Çetin, Direk, M.Ç., Besen, Åž., Günbey, C., ÖzdoÄŸan, O., Orgun, L.T., Kanmaz, Seda, Yılmaz, Sanem, Tekgül, Hasan, Ãœnver, Olcay, Yılmaz, Deniz, Kurt, AyÅŸegül NeÅŸe, Gültutan, Pembe, YiÅŸ, Uluç, Güngör, Serdal, Özgör, Bilge, KaradaÄŸ, Meral, Dündar, Nihal Olgaç, Gençpınar, Pınar, Bildik, Olgay, Karaca, Ömer, Gümüş, Hakan, Per, Hüseyin, KaraoÄŸlu, Pakize, Tosun, AyÅŸe, Öztürk, Semra Büyükkorkmaz, Yüksel, Deniz, Atasoy, Ergin, Anlar, Banu, Öncel, Ä°., Sahin, S., Cansu, Ali, Yıldız, Nihal, TürkdoÄŸan, DilÅŸad, Thomas, Gülten Öztürk, Başıbüyük, Salih, Özsoy, Özlem, Kurul, Semra Hız, Kabur, ÇiÅŸil Çerçi, Kara, Bülent, Erol, Ä°lknur, Yılmaz, Ãœnsal, Ersoy, Özlem, Gücüyener, Kıvılcım
مصطلحات موضوعية: Treatment, Multiple sclerosis, Myelin oligodendrocyte glycoprotein antibody, Neuromyelitis optica, Pediatric optic neuritis, methylprednisolone, myelin oligodendrocyte glycoprotein, protein antibody, adolescent, adolescent health, Article, child, child health, clinical evaluation, clinical feature, convalescence, demography, disease association, disease predisposition, drug effect, drug pulse therapy, female, follow up, human, major clinical study, male, multicenter study (topic), nuclear magnetic resonance imaging, onset age, optic neuritis
Relation: Multiple Sclerosis and Related Disorders; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1016/j.msard.2023.105149; https://hdl.handle.net/11499/56549; 81; WOS:001138961000001
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4Academic Journal
المؤلفون: Uzan, Gamze Sarıkaya, Günay, Çağatay, Kurul, Semra Hız, Yiş, Uluç
المصدر: Annals of Indian Academy of Neurology ; volume 26, issue 4, page 578-580 ; ISSN 0972-2327 1998-3549
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5Academic Journal
المؤلفون: Günay, Çağatay, Kurul, Semra H., Yiş, Uluç
المصدر: Annals of Indian Academy of Neurology ; volume 26, issue 3, page 293-296 ; ISSN 0972-2327 1998-3549
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6Academic Journal
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
المصدر: Cerebellum; Oct2024, Vol. 23 Issue 5, p1950-1965, 16p
مصطلحات موضوعية: MISSENSE mutation, CEREBELLUM degeneration, PHENOTYPIC plasticity, GENETIC variation, NUCLEOTIDE sequencing
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7Academic Journal
المؤلفون: Van Der Knoop, Marieke M., Maroofian, Reza, Fukata, Yuko, Van Ierland, Yvette, Karimiani, Ehsan G., Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, De França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A.L., Eaton, Alison J., Morneau-Jacob, Francois D., Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J., Peeters-Scholte, Cacha M.P.C.D., Kurul, Semra Hiz, Horvath, Rita, Lochmöller, Hanns, Murphy, David, Waldmöller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M., Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S., Voinova, Victoria Y., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Alkuraya, Fowzan S., Mefford, Heather C., Alfadhel, Majid, Haack, Tobias B., Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry
المصدر: Van Der Knoop , M M , Maroofian , R , Fukata , Y , Van Ierland , Y , Karimiani , E G , Lehesjoki , A E , Muona , M , Paetau , A , Miyazaki , Y , Hirano , Y , Selim , L , De França , M , Fock , R A , Beetz , C , Ruivenkamp , C A L , Eaton , A J , Morneau-Jacob , F D , Sagi-Dain , L , Shemer-Meiri , L , Peleg , A , Haddad-Halloun , J , Kamphuis , D ....
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Kurul, Semra Hiz, Oktay, Yavuz, Töpf, Ana, Szabó, Nóra Zs, Lochmüller, Hanns, Horvath, Rita
المصدر: Brain. - 145, 4 (2022) , 1507-1518, ISSN: 1460-2156
وصف الملف: pdf
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9Academic Journal
المؤلفون: van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna-Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia AL, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha MPCD, Hiz Kurul, Semra, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry
المصدر: Brain , 145 (7) pp. 2301-2312. (2022)
مصطلحات موضوعية: ADAM22, LGI1, developmental and epileptic encephalopathy, refractory seizures
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10146747/1/awac116.pdf; https://discovery.ucl.ac.uk/id/eprint/10146747/
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10Academic Journal
المؤلفون: Cingoz, Sultan, Soydemir, Didem, Oner, Tulay Oncu, Karaca, Ezgi, Ozden, Burcu, Kurul, Semra Hiz, Bayram, Erhan, Coe, Bradley P., Nickerson, Deborah A., Eichler, Evan E.
المصدر: EUROPEAN JOURNAL OF MEDICAL GENETICS 65(6)
Relation: https://aperta.ulakbim.gov.tr/record/261845; oai:aperta.ulakbim.gov.tr:261845
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11Academic Journal
المؤلفون: Sönmezler, Ece, Stuani, Cristiana, Kurul, Semra Hız, Güngör, Serdal, Buratti, Emanuele, Oktay, Yavuz
المصدر: Human Mutation; 5/28/2024, Vol. 2024, p1-17, 17p
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12Academic Journal
Alternate Title: Nöroimmünolojik Hastalıkları Olan Çocuklarda Terapötik Plazma Değişiminde Tekmerkez Deneyimi: Endikasyonlar, Etkinlik ve Güvenilirlik. (Turkish)
المؤلفون: Günay, Çağatay, Arslan, Gazi, Özsoy, Özlem, Uzan, Gamze Sarıkaya, Aykol, Duygu, Besci, Tolga, Kurul, Semra Hız, Aydın, Adem, Yiş, Uluç
المصدر: Anatolian Journal of General Medical Research; 2024, Vol. 34 Issue 1, p57-64, 8p
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13Academic Journal
المؤلفون: Traschütz, Andreas, Schirinzi, Tommaso, Laugwitz, Lucia, Murray, Nathan, Bingman, Craig, Reich, Selina, Kern, Jan, Heinzmann, Anna, Vasco, Gessica, Bertini, Enrico, Zanni, Ginevra, Durr, Alexandra, Magri, Stefania, Taroni, Franco, Malandrini, Alessandro, Baets, Jonathan, de Jonghe, Peter, de Ridder, Willem, Bereau, Matthieu, Demuth, Stephanie, Ganos, Christos, Basak, a Nazli, Hanagasi, Hasmet, Kurul, Semra Hiz, Bender, Benjamin, Schöls, Ludger, Grasshoff, Ute, Klopstock, Thomas, Horvath, Rita, van de Warrenburg, Bart, Burglen, Lydie, Rougeot, Christelle, Ewenczyk, Claire, Koenig, Michel, Santorelli, Filippo, Anheim, Mathieu, Munhoz, Renato, Haack, Tobias, Distelmaier, Felix, Pagliarini, David, Puccio, Hélène, Synofzik, Matthis
المساهمون: Eberhard Karls Universität Tübingen = University of Tübingen, German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Università degli Studi di Roma Tor Vergata Roma, Italia = University of Rome Tor Vergata Rome, Italy = Université de Rome Tor Vergata Rome, Italie, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, University Children's Hospital of Tübingen, Partenaires INRAE, Morgridge Institute for Research Madison, University of Wisconsin-Madison, Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Fondazione IRCCS Istituto Neurologico "Carlo Besta", Università degli Studi di Siena = University of Siena (UNISI), University of Antwerp (UA), Antwerp University Hospital Edegem (UZA), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC), Université de Genève = University of Geneva (UNIGE), Praxis für Humangenetik, Charité - UniversitätsMedizin = Berlin University Medicine, Koç University, Istanbul University, Dokuz Eylül Üniversitesi = Dokuz Eylül University Izmir (DEÜ), Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Munich Cluster for systems neurology Munich (SyNergy), Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM)-Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), University of Cambridge UK (CAM), Newcastle University Newcastle, Radboud University Medical Center Nijmegen (RadboudUMC), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Trousseau APHP, Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Université de Montpellier (UM), IRCCS Fondazione Stella Maris Pisa, Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital de Hautepierre Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Toronto, Heinrich Heine Universität Düsseldorf = Heinrich Heine University Düsseldorf, ANR-15-RAR3-0011,PREPARE,Preparing for therapies in autosomal recessive ataxias(2015)
المصدر: ISSN: 0364-5134.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/32337771; PUBMED: 32337771; PUBMEDCENTRAL: PMC7877690
الاتاحة: https://hal.science/hal-03616328
https://hal.science/hal-03616328v1/document
https://hal.science/hal-03616328v1/file/Annals%20of%20Neurology%20-%202020%20-%20Trasch%20tz%20-%20Clinico%25u2010Genetic%20Imaging%20and%20Molecular%20Delineation%20of%20COQ8A%25u2010Ataxia%20A%20Multicenter.pdf
https://doi.org/10.1002/ana.25751 -
14Academic Journal
المؤلفون: Traschuetz, Andreas, Schirinzi, Tommaso, Laugwitz, Lucia, Murray, Nathan H., Bingman, Craig A., Reich, Selina, Kern, Jan, Heinzmann, Anna, Vasco, Gessica, Bertini, Enrico, Zanni, Ginevra, Durr, Alexandra, Magri, Stefania, Taroni, Franco, Malandrini, Alessandro, Baets, Jonathan, De Jonghe, Peter, De Ridder, Willem, Bereau, Matthieu, Demuth, Stephanie, Ganos, Christos, Basak, A. Nazli, Hanagasi, Hasmet, Kurul, Semra Hiz, Bender, Benjamin, Schoels, Ludger, Grasshoff, Ute, Klopstock, Thomas, Horvath, Rita, van de Warrenburg, Bart, Burglen, Lydie, Rougeot, Christelle, Ewenczyk, Claire, Koenig, Michel, Santorelli, Filippo M., Anheim, Mathieu, Munhoz, Renato P., Haack, Tobias, Distelmaier, Felix, Pagliarini, David J., Puccio, Helene, Synofzik, Matthis
المصدر: 0364-5134 ; Annals of neurology
مصطلحات موضوعية: Human medicine
Relation: info:eu-repo/semantics/altIdentifier/isi/000539105500001
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15Academic Journal
المؤلفون: Paketci, Cem, YİŞ, ULUÇ, Kurul, Semra Hiz, Bayram, Erhan, GÜLERYÜZ UÇAR, HANDAN, Sarioglu, Fatma Ceren, Okur, Derya, Edem, Pinar
Relation: b91564ff-8990-49b9-a470-e3e8299142b5; https://avesis.deu.edu.tr/publication/details/b91564ff-8990-49b9-a470-e3e8299142b5/oai
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16Academic Journal
المؤلفون: Sarıkaya Uzan, Gamze, Yılmaz Uzman, Ceren, Çinleti, Tayfun, Günay, Çağatay, Ülgenalp, Ayfer, Hiz Kurul, Semra, Yiş, Uluç
المصدر: Molecular Syndromology; 2024, Vol. 15 Issue 1, p14-21, 8p
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17Academic Journal
المؤلفون: Özsoy, Özlem, Cinleti, Tayfun, Günay, Çağatay, Sarıkaya Uzan, Gamze, Giray Bozkaya, Özlem, Çağlayan, Ahmet Okay, Hız Kurul, Semra, Yiş, Uluç
المصدر: Acta Neurologica Belgica; Dec2023, Vol. 123 Issue 6, p2325-2335, 11p
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18Academic Journal
Alternate Title: Şiddetli Akut Solunum Yolu Enfeksiyonu Sendromu Koronavirüs 2 ile İlişkili Süperior Sagittal Sinüs Trombozuna Sekonder Pediatrik Psödotumor Cerebri Sendromu ve Literatür İncelenmesi. (Turkish)
المؤلفون: Yeşilmen, Mehmet Can, Günay, Çağatay, Uzan, Gamze Sarıkaya, Özsoy, Özlem, Kurul, Semra Hız, Yaşar, Elif, Yiş, Uluç
المصدر: Journal of Behcet Uz Children's Hospital; Dec2023, Vol. 13 Issue 3, p203-206, 4p
مصطلحات موضوعية: COVID-19, SINUS thrombosis, INTRACRANIAL hypertension, LITERATURE reviews, CONTRAST-enhanced magnetic resonance imaging, LOW-molecular-weight heparin
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19Academic Journal
المؤلفون: Sarikaya Uzan, Gamze, Yiş, ULUÇ, Günay, ÇAĞATAY, Hiz Kurul, Semra, Özsoy, Özlem
Relation: 59eb34af-2074-4bc9-a7af-2dd4dcbb6850; https://avesis.deu.edu.tr/publication/details/59eb34af-2074-4bc9-a7af-2dd4dcbb6850/oai
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20Academic Journal
المؤلفون: Tekin Orgun, Leman, Cansu, Ali, Uzunhan, Tuğçe Aksu, Gencpinar, Pinar, Ersoy Kosvalı, Özlem, Didinmez, Elif, Gazeteci, Hande, Ünalp, Aycan, Yılmaz, Ünsal, Gezdirici, Alper, Aykol, DUYGU, Günay, ÇAĞATAY, Bursalı, Ahmet, Yeşilmen, Mehmet Can, Gök, Ayşen, Ülker Üstebay, Döndü, Türay, Sevim, Ayaz, Akif, Ölmez, Akgün, Ayanoğlu, Müge, Ertürk, Biray, Karal, Yasemin, Tosun, Ayse, Edem, Pinar, Topçu, Yasemin, Kılıç, Betül, Aydın, Kürşad, Çağlar, Ezgi, Öztürk, Gülten, Kirik, Serkan, Dokurel, İpek, Mert, Gulen Gul, Sanrı, Aslıhan, Biçer, Didem, Tekgul, Hasan, Yıldız, Nihal, Oktay, YAVUZ, Karakülah, GÖKHAN, Hiz-Kurul, Semra, Acar Arslan, Elif, Yiş, ULUÇ, Yaramis, Ahmet, Eldes Hacıfazlıoğlu, Nilüfer, Uyur Yalçın, Emek, Şahinoğlu, Bahtiyar, Dilber, Cengiz, Karadağ, Meral, Özgör, Bilge, Güngör, Serdal, Kuşgöz, Fatma, Olgac Dundar, Nihal, Oztoprak, Ulkuhan, Atasoy, Ergin, Sezer, Abdullah, Yüksel, Deniz, Erol, Ilknur, Özsoy, Özlem, Okuyaz, Cetin, Besen, Şeyda, Sarikaya Uzan, Gamze, Soydemir, Didem, Özgün, Nezir, Polat, Muzaffer, Aksoy, Ayse, Sönmezler, Ece, Hancı, Yaren Sena, Kara, Bülent, Sünnetçi, Deniz, Cine, Naci, Deniz, Adnan, Özer, Tolgahan, Ölçülü, Büşra, Yilmaz, Ozlem, Kanmaz, Seda, Yilmaz, Sanem
Relation: 209c460d-631b-4320-969d-c1f58ca1f24c; https://avesis.deu.edu.tr/publication/details/209c460d-631b-4320-969d-c1f58ca1f24c/oai