نتائج البحث - "Gokalp, Ebru Erzurumluoglu"

1

Academic Journal

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

المؤلفون: Yararbas, Kanay, Yilmaz, Mustafa, Tasdemir, Mehmet, Gunes, Meltem Cerrah, Boz, Mehmet, Bas, Hasan, Kenanoglu, Sercan, Ozcelik, Firat, Percin, E. Ferda, Ozkinay, Ferda, Altintas, Zuhal Mert, Dundar, Munis, Fahrioglu, Umut, Yildiz, Saliha Handan, Bakir-Gungor, Burcu, Temel, Sehime Gulsun, Akin, Haluk, Artan, Sevilhan, Cora, Tulin, Sahin, Feride Iffet, Dursun, Ahmet, Sezer, Ozlem, Altinay, Mert, Ergun, Sezen Guntekin, Gunduz, C. Nur Semerci, Terzi, Yunus Kasim, Geckinli, Bilgen Bilge, Bisgin, Atil, Kahraman, Cigdem Yuce, Yuksel, Berrin, Nur, Banu, Erdem, Levent, Gursoy, Sebnem, Demir, Mikail, Eraslan, Serpil, Durmaz, Asude, Silan, Fatma, Sarac, Elif, Aymelek, Huri Sema, Saatci, Cetin, Cankaya, Tufan, Yigit, Serbulent, Bahadir, Oguzhan, Tekes, Selahaddin, Kiranatlioglu, Kubra, Cetin, G. Ozan, Senel, Abdurrahman Soner, Yildirim, Mahmut Selman, Beyitler, Ilke, Thahir, Adam, Kisaarslan, Ayse Nur Pac, Ates, Esra Arslan, Bozdogan, Sevcan Tug, Duman, Nilgun, Ceylan, Ahmet Cevdet, Zamani, Aysegul, Bora, Elcin, Karaduman, Neslihan, Ergoren, Mahmut Cerkez, Onal, Muge Gulcihan, Yuce, Huseyin, Clark, Ozden Altiok, Ercal, Derya, Erguzeloglu, Cemre Ornek, Karakoyun, Hilal Keskin, Kocak, Nadir, Baskol, Mevlut, Tulay, Pinar, Ceylan, Gulay Gulec, Arman, Ahmet, Kaya, Niyazi, Balta, Burhan, Dogan, Berkcan, Bilge, Ilmay, Kutlay, Nuket Yurur, Bayramicli, Oya Uygur, Cogulu, Ozgur, Mihci, Ercan, Baysal, Kubra, Siniksaran, Betul Seyhan, Erdogan, Mujgan Ozdemir, Tuncel, Gulten, Temena, Arda, Dundar, Ayca, Ozkul, Yusuf, Tozkir, Hilmi, Toylu, Asli, Kocabey, Mehmet, Cevik, Muhammer Ozgur, Karabulut, Halil Gurhan, Coskun, Mert, Kale, Hamdi, Aykut, Ayca, Cilingir, Oguz, Caglayan, Ahmet Okay, Mardan, Lamiya, Acar, Aynur, Colak, Fatma Kurt, Kandemir, Nefise, Koc, Altug, Aliyeva, Lamiya, Erdogan, Murat, Kebudi, Rejin, Eroz, Recep, Onay, Huseyin, Sahin, Izem Olcay, Bayram, Arslan, Gonen, Gizem Akinci, Dundar, Bilge, Baskin, Esra Sidika, Poyrazoglu, Muammer Hakan, Boga, Ibrahim, Kazimli, Ulviyya, Zararsiz, Gozde Erturk, Nergiz, Suleyman, Sanri, Aslihan, Komesli, Zeynep, Demirtas, Mercan, Durmaz, Burak, Karaca, Emin, Beyazit, Serife Busra, Onder, Nerin Bahceciler, Emekli, Rabia, Solak, Mustafa, Gurakan, Figen, Uzel, Veysiye Hulya, Ozdemir, Sevda Yesim, Subasioglu, Asli, Atasever, Umut, Karasu, Nilgun, Demir, Huseyin, Dincer, Selin Akad, Sag, Sebnem Ozemri, Akalin, Hilal, Sayar, Ceyhan, Ulu, Memnune Sena, Genc, Gunes Cakmak, Erten, Sukran, Altunoglu, Umut, Tumer, Sait, Gokalp, Ebru Erzurumluoglu, Kavukcu, Salih, Kiraz, Aslihan, Duman, Yesim Sidar, Bagis, Haydar, Gurkan, Hakan, Yildirim, Malik Ejder, Haziyeva, Konul, Kabayegit, Zehra Manav, Kuru, Seda, Ulgenalp, Ayfer, Elmas, Muhsin, Tuncali, Timur, Kocagil, Sinem, Arslan, Serap, Em, Serda, Zeybel, Mujdat, Tosun, Ozgur, Aydin, Zafer, Susam, Ezgi, Ozkayin, Nese, Turkgenc, Burcu, Firat, Cem Koray, Kurt, E. Emre, Ruhi, Hatice Ilgin, Keklikci, Ali Riza, Tunc, Betul, Alemdar, Adem, Bozkaya, Ozlem Giray, Bozkurt, Gokay, Mocan, Gamze, Tatar, Abdulgani, Aras, Beyhan Durak, Emmungil, Hakan, Aynekin, Busra, Ergun, Mehmet Ali, Uyguner, Zehra Oya, Yalcintepe, Sinem, Altan, Mustafa, Calis, Mustafa, Kulak, Hande, Ozdemir, Ozturk

مصطلحات موضوعية: Familial Mediterranean fever, Genotype-phenotype correlations, MEFV, National Genetics Consortium, Protein Asc, Kappa-B, Mutations, Pyrin, Autoinflammation, Associations, Amyloidosis, Prevalence, Activation

Relation: Functional & Integrative Genomics; Makale - UluslararasÄ± Hakemli Dergi - Kurum Ã–ÄŸretim ElemanÄ±; https://hdl.handle.net/11499/46686; 22; 291; 315; WOS:000748447100001

الاتاحة: https://hdl.handle.net/11499/46686
https://doi.org/10.1007/s10142-021-00819-3

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2

Academic Journal

Frequency of frontotemporal dementia-related gene variants in Turkey

المؤلفون: Artan, Sevilhan, Gokalp, Ebru Erzurumluoglu, Samanci, Bedia, Adapinar, Demet Ozbabalik, Bas, Hasan, Tepgec, Fatih, Ekenel, Emilia Qomi, Cilingir, Oguz, Bilgic, Basar, Gurvit, Hakan, Hanagasi, Hasmet Ayhan, Kocagil, Sinem, Aras, Beyhan Durak, Uyguner, Oya, Emre, Murat

المصدر: NEUROBIOLOGY OF AGING 106

Relation: https://aperta.ulakbim.gov.tr/record/229784; oai:aperta.ulakbim.gov.tr:229784

الاتاحة: https://aperta.ulakbim.gov.tr/record/229784

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3

Academic Journal

ERCC8-related Cockayne syndrome type-1: A rare entity diagnosed in a Turkish boy.

المؤلفون: Kocagil, Sinem, Keklikci, Ali Riza, Aydemir, Yusuf, Cilingir, Oguz, Aynaci, Sabri, Gokalp, Ebru Erzurumluoglu, Aras, Beyhan Durak, Artan, Sevilhan

المصدر: Journal of Surgery & Medicine (JOSAM); 2023, Vol. 7 Issue 10, p719-721, 3p

مصطلحات موضوعية: CATARACT, PHOTOSENSITIVITY disorders, MICROCEPHALY, SENSORINEURAL hearing loss, MAGNETIC resonance imaging, DIAGNOSIS of brain abnormalities, COCKAYNE syndrome, RARE diseases, GROWTH disorders, CHILD development deviations, EATING disorders, SYMPTOMS

مصطلحات جغرافية: TURKEY

4

Academic Journal

A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay

المؤلفون: BİLGİÇ, Başar, HANAĞASI, Haşmet Ayhan, SAMANCI, Bedia, Gurvit, Hakan, ARTAN, SEVİLHAN, Gokalp, Ebru Erzurumluoglu

المساهمون: Eskişehir Osmangazi Üniversitesi,, 2521878

Relation: NEUROLOGICAL SCIENCES; SAMANCI B., Gokalp E. E. , BİLGİÇ B., Gurvit H., ARTAN S., HANAĞASI H. A. , "A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay", NEUROLOGICAL SCIENCES, 2021; vv_1032021; av_c62815cd-61e5-4513-ac14-622b7d87e4c5; http://hdl.handle.net/20.500.12627/1439; https://doi.org/10.1007/s10072-021-05117-1

الاتاحة: https://hdl.handle.net/20.500.12627/1439
https://doi.org/10.1007/s10072-021-05117-1

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5

Academic Journal

A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease

المؤلفون: GÜLEÇ, Çağrı, Guler, Suleyman, UYGUNER, Zehra Oya, BİLGİÇ, Başar, Hanagasi, Hasmet, Tepgec, Fatih, SAMANCI, Bedia, GÜRVİT, İbrahim Hakan, Gokalp, Ebru Erzurumluoglu, Guven, Gamze

المساهمون: İstanbul Üniversitesi ,, 2655979

Relation: NEUROLOGICAL SCIENCES; Guven G., SAMANCI B., GÜLEÇ Ç., Hanagasi H., GÜRVİT İ. H. , Gokalp E. E. , Tepgec F., Guler S., UYGUNER Z. O. , BİLGİÇ B., "A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease", NEUROLOGICAL SCIENCES, cilt.42, sa.6, ss.2497-2504, 2021; vv_1032021; av_2059e3f0-6c5e-447b-869f-5d0e2f35afd3; http://hdl.handle.net/20.500.12627/168925; https://doi.org/10.1007/s10072-021-05243-w; 42; 2497; 2504

الاتاحة: https://hdl.handle.net/20.500.12627/168925
https://doi.org/10.1007/s10072-021-05243-w

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