المؤلفون: Isik, Fatma Busra, Ozturan, Esin Karakilic, Sozuguzel, Mavi Deniz, Ozturk, Ayse Pinar, Parlayan, Cuneyd, CANGÜL, HAKAN, Darendeliler, Feyza, Al, Asli Derya Kardelen, Bas, Firdevs, Poyrazoglu, Sukran

المساهمون: İstanbul Medipol Üniversitesi ,, 267442

مصطلحات موضوعية: Tıp, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED), PEDİATRİ, Sağlık Bilimleri, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları

العلاقة: HORMONE RESEARCH IN PAEDIATRICS; Al A. D. K. , Isik F. B. , Ozturan E. K. , Sozuguzel M. D. , Ozturk A. P. , Poyrazoglu S., Parlayan C., CANGÜL H., Bas F., Darendeliler F., "The investigation of genetic etiology in familial cases with congenital hypothyroidism", HORMONE RESEARCH IN PAEDIATRICS, cilt.91, ss.199, 2019; vv_1032021; av_10e2c618-bced-4bec-a1ed-08952164308a; http://hdl.handle.net/20.500.12627/16860Test; 91; 199

الإتاحة: https://doi.org/20.500.12627/16860Test
https://hdl.handle.net/20.500.12627/16860Test

المؤلفون: Gerlevik, Umut, Saygı, Ceren, Cangül, Hakan, Kutlu, Aslı, Çaralan, Erdal Fırat, Topçu, Yasemin, Özören, Nesrin, Sezerman, Osman Uğur

مصطلحات موضوعية: Molecular dynamics simulations, Filamin-A, Missense mutations found in liveborn males, Periventricular nodular heterotopia

العلاقة: https://zenodo.org/record/4483108Test; https://doi.org/10.5281/zenodo.4483108Test; oai:zenodo.org:4483108

الإتاحة: https://doi.org/10.5281/zenodo.4483108Test
https://doi.org/10.5281/zenodo.4483107Test
https://zenodo.org/record/4483108Test

المؤلفون: Işık, Fatma Büşra, Sözügüzel, Mavi Deniz, Genç, Nimetullah Mete, Çaralan, E. F., Doğru, Zübeyir, Akdeniz, Coşkun, Tuzcu, Volkan, Cangül, Hakan

مصطلحات موضوعية: Catecholaminergic, Polymorphic, Ventricular Tachycardia

العلاقة: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG); Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Işık, F. B., Sözügüzel, M. D., Genç, N., Çaralan, E. F., Doğru, Z., Akdeniz, C. . Cangül, H. (2019). A novel candidate frameshift mutation for catecholaminergic polymorphic ventricular tchycardia. 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) içinde (143-143. ss.). Milan, Italy, June 16-19, 2018.; https://hdl.handle.net/20.500.12511/4797Test; 27; Supplement: 1; 143; Q2

الإتاحة: https://doi.org/20.500.12511/4797Test
https://hdl.handle.net/20.500.12511/4797Test

المؤلفون: Kardelen Al, Aslı Derya, Işık, Fatma Büşra, Karakılıç Özturan, Esin, Sözügüzel, Mavi Deniz, Öztürk, Ayşe Pınar, Poyrazoğlu, Şükran, Parlayan, Cüneyd, Cangül, Hakan, Baş, Firdevs, Darendeliler, Feyza

مصطلحات موضوعية: Congenital Hypothyroidism, Genetic, Etiology

وصف الملف: application/pdf

العلاقة: Hormone Research In Paediatrics; Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Kardelen Al, A. D., Işık, F. B., Karakılıç Özturan, E., Sözügüzel, M. D., Öztürk, A. P., Poyrazoğlu, Ş. . Darendeliler, F. (2019). The investigation of genetic etiology in familial cases with congenital hypothyroidism. Hormone Research In Paediatrics içinde (199-199. ss.).; https://hdl.handle.net/20.500.12511/4750Test; 91; Supplement: 1; 199; Q2

الإتاحة: https://doi.org/20.500.12511/4750Test
https://hdl.handle.net/20.500.12511/4750Test

المؤلفون: Sözügüzel, Mavi Deniz, Işık, Fatma Büşra, Genç, Nimetullah Mete, Çaralan, E. F., Doğru, Zübeyir, Akdeniz, Coşkun, Cangül, Hakan

مصطلحات موضوعية: Andersen Tawil Syndrome, Missense, KCNJ2

العلاقة: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG); Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Sözügüzel, M. D., Işık, F. B., Genç, N., Caralan, E. F., Doğru, Z., Akdeniz, C. . Cangül, H. (2019). A novel missense KCNJ2 gene mutation associated with andersen tawil syndrome. 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) içinde (918-918. ss.). Milan, Italy, June 16-19, 2018.; https://hdl.handle.net/20.500.12511/4799Test; 27; Supplement: 1; 918; Q2

الإتاحة: https://doi.org/20.500.12511/4799Test
https://hdl.handle.net/20.500.12511/4799Test

المؤلفون: Işık, Fatma Büşra, Sözügüzel, Mavi Deniz, Kılıçoğlu Aydın, Birsen, Parlayan, Cüneyd, Yıldız, Mete, Cangül, Hakan

مصطلحات موضوعية: SLC5A5 Gene, Congenital Hypothyroidism, Mutation, p.R516X

العلاقة: 52nd Conference of the European-Society-of-Human-Genetics (ESHG); Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Işık, F. B., Sözügüzel, M. D., Kılıçoğlu Aydın, B., Parlayan, C., Yıldız, M. ve Cangül, H. (2019). A novel homozygous nonsense mutation (p.R516X) in the SLC5A5 gene causing congenital hypothyroidism. 52nd Conference of the European-Society-of-Human-Genetics (ESHG) içinde (1248-1249. ss.). Gothenburg, Sweden, June 15-18, 2019.; https://hdl.handle.net/20.500.12511/4675Test; 27; Supplement: 2; 1248; 1249; Q2

الإتاحة: https://doi.org/20.500.12511/4675Test
https://hdl.handle.net/20.500.12511/4675Test

المؤلفون: Özel, Mavi Deniz, Gönenli Toker, Sinem, Ağargün, Mehmet Yücel, Fışkırma, I. A., Çaralan, Erdal Fırat, Genç, Nimetullah Mete, Cangül, Hakan, Üstek, Duran

مصطلحات موضوعية: Chronic Tic Disorder, Tourette Syndrome, Large Family

العلاقة: 50th European-Society-of-Human-Genetics (ESHG) Conference; info:eu-repo/grantAgreement/TUBITAK/SOBAG/116S086; Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Özel, M. D., Gönenli Toker, S., Ağargün, M. Y., Fışkırma, I. A., Çaralan, E. F., Genç, N. M. . Üstek, D. (2018). Exome sequencing in a large family with Tourette Syndrome/Chronic Tic Disorder. 50th European-Society-of-Human-Genetics (ESHG) Conference içinde (947-947. ss.). Copenhagen, Denmark, May 27-30, 2017.; https://hdl.handle.net/20.500.12511/6233Test; 26; Supplement: S; 947; Q2

الإتاحة: https://doi.org/20.500.12511/6233Test
https://hdl.handle.net/20.500.12511/6233Test

المؤلفون: Cangül, Hakan, Özel, Mavi Deniz, Genç, Nimetullah Mete, Kardelen Al, Aslı Derya, Darendeliler, Feyza

مصطلحات موضوعية: Congenital Hypothyroidism, Genetic Test, Diagnosis

العلاقة: 50th European-Society-of-Human-Genetics (ESHG) Conference; Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Cangül, H., Özel, M. D., Genç, N. M., Kardelen Al, A. D. ve Darendeliler, F. (2018). Development of the most comprehensive genetic test based on next generation sequencing for diagnosis of congenital hypothyroidism. 50th European-Society-of-Human-Genetics (ESHG) Conference içinde (198-198. ss.). Copenhagen, Denmark, May 27-30, 2017.; https://hdl.handle.net/20.500.12511/6229Test; 26; Supplement: S; 198; Q2

الإتاحة: https://doi.org/20.500.12511/6229Test
https://hdl.handle.net/20.500.12511/6229Test

المؤلفون: ÜSTEK, DURAN, Dogan, Murat, CANGÜL, HAKAN

العلاقة: 9f989a16-b946-4418-9a24-8147f741ce9d; https://avesis.yyu.edu.tr/publication/details/9f989a16-b946-4418-9a24-8147f741ce9d/oaiTest

الإتاحة: https://doi.org/10.4274/jcrpe.1920Test
https://avesis.yyu.edu.tr/publication/details/9f989a16-b946-4418-9a24-8147f741ce9d/oaiTest

المؤلفون: Babayigit, H. Omur, DEMİR, KORCAN, CANGÜL, HAKAN, ABACI, AYHAN, BÖBER, ECE

العلاقة: 754e3a24-941d-4103-a439-761153dba3a3; https://avesis.deu.edu.tr/publication/details/754e3a24-941d-4103-a439-761153dba3a3/oaiTest

الإتاحة: https://doi.org/10.4274/jcrpe.2017Test
https://avesis.deu.edu.tr/publication/details/754e3a24-941d-4103-a439-761153dba3a3/oaiTest