Torthaí cuardaigh - Topaloglu, A. Kemal

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Mutations in FEZF1 Cause Kallmann Syndrome de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1 de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

TAC3 and TACR3 Mutations in Familial Hypogonadotropic Hypogonadism Reveal a Key Role for Neurokinin B in the Central Control of Reproduction de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome de réir 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.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Quantitation of fibroblast activation protein (FAP)-specific protease activity in mouse, baboon and human fluids and organs() de réir 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.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán