Resultats de la cerca - Topaloglu, A. Kemal

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

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

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Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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() per 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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