Rezultati pretrage - Topaloglu, A. Kemal

Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism od Topaloğlu, A. Kemal

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Review of human genetic and clinical studies directly relevant to GnRH signalling od Seminara, Stephanie B., Topaloglu, A. Kemal

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Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations od Akkuş, Gamze, Kotan, Leman Damla, Durmaz, Erdem, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Gürbüz, Fatih, Yüksel, Bilgin, Tetiker, Tamer, Topaloğlu, A. Kemal

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CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism od Turan, Ihsan, Hutchins, B. Ian, Hacihamdioglu, Bulent, Kotan, L. Damla, Gurbuz, Fatih, Ulubay, Ayca, Mengen, Eda, Yuksel, Bilgin, Wray, Susan, Topaloglu, A. Kemal

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CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration od Hutchins, B. Ian, Kotan, L. Damla, Taylor-Burds, Carol, Ozkan, Yusuf, Cheng, Paul J., Gurbuz, Fatih, Tiong, Jean D. R., Mengen, Eda, Yuksel, Bilgin, Topaloglu, A. Kemal, Wray, Susan

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Mutations in FEZF1 Cause Kallmann Syndrome od Kotan, L. Damla, Hutchins, B. Ian, Ozkan, Yusuf, Demirel, Fatma, Stoner, Hudson, Cheng, Paul J., Esen, Ihsan, Gurbuz, Fatih, Bicakci, Y. Kenan, Mengen, Eda, Yuksel, Bilgin, Wray, Susan, Topaloglu, A. Kemal

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MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability od Wood-Trageser, Michelle A., Gurbuz, Fatih, Yatsenko, Svetlana A., Jeffries, Elizabeth P., Kotan, L. Damla, Surti, Urvashi, Ketterer, Deborah M., Matic, Jelena, Chipkin, Jacqueline, Jiang, Huaiyang, Trakselis, Michael A., Topaloglu, A. Kemal, Rajkovic, Aleksandar

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Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1 od Kotan, Leman Damla, Cooper, Charlton, Darcan, Şükran, Carr, Ian M., Özen, Samim, Yan, Yi, Hamedani, Mohammad K., Gürbüz, Fatih, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Akkuş, Gamze, Yüksel, Bilgin, Topaloğlu, A. Kemal, Leygue, Etienne

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Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor od Guran, Tulay, Tolhurst, Gwen, Bereket, Abdullah, Rocha, Nuno, Porter, Keith, Turan, Serap, Gribble, Fiona M., Kotan, L. Damla, Akcay, Teoman, Atay, Zeynep, Canan, Husniye, Serin, Ayse, O’Rahilly, Stephen, Reimann, Frank, Semple, Robert K., Topaloglu, A. Kemal

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TAC3 and TACR3 Mutations in Familial Hypogonadotropic Hypogonadism Reveal a Key Role for Neurokinin B in the Central Control of Reproduction od Topaloglu, A.Kemal, Reimann, Frank, Guclu, Metin, Yalin, Ayse Serap, Kotan, L. Damla, Porter, Keith M, Serin, Ayse, Mungan, Neslihan O, Cook, Joshua R, Imamoglu, Sazi, Akalin, N. Sema, Yuksel, Bilgin, O’Rahilly, Stephen, Semple, Robert K

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Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling od Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd

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Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome od Topaloglu, A. Kemal, Lomniczi, Alejandro, Kretzschmar, Doris, Dissen, Gregory A., Kotan, L. Damla, McArdle, Craig A., Koc, A. Filiz, Hamel, Ben C., Guclu, Metin, Papatya, Esra D., Eren, Erdal, Mengen, Eda, Gurbuz, Fatih, Cook, Mandy, Castellano, Juan M., Kekil, M. Burcu, Mungan, Neslihan O., Yuksel, Bilgin, Ojeda, Sergio R.

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Quantitation of fibroblast activation protein (FAP)-specific protease activity in mouse, baboon and human fluids and organs() od Keane, Fiona M., Yao, Tsun-Wen, Seelk, Stefanie, Gall, Margaret G., Chowdhury, Sumaiya, Poplawski, Sarah E., Lai, Jack H., Li, Youhua, Wu, Wengen, Farrell, Penny, Vieira de Ribeiro, Ana Julia, Osborne, Brenna, Yu, Denise M.T., Seth, Devanshi, Rahman, Khairunnessa, Haber, Paul, Topaloglu, A. Kemal, Wang, Chuanmin, Thomson, Sally, Hennessy, Annemarie, Prins, John, Twigg, Stephen M., McLennan, Susan V., McCaughan, Geoffrey W., Bachovchin, William W., Gorrell, Mark D.

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