Хайлтын үр дүнгүүд - Topaloglu, A. Kemal

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Mutations in FEZF1 Cause Kallmann Syndrome -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1 -н 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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

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

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах