Your search returned 31 results.

Results
	21.	Mutations in FEZF1 cause Kallmann syndrome. [electronic resource] by 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 Producer: 20141030 In: American journal of human genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. [electronic resource] by Borck, Guntram Topaloglu, A Kemal Korsch, Eckhard Martiné, Ursula Wildhardt, Gabriele Onenli-Mungan, Neslihan Yuksel, Bilgin Aumann, Ulrich Koch, Gerhard Ozer, Guler Pfäffle, Roland Scherberg, Neal H Refetoff, Samuel Pohlenz, Joachim Producer: 20040903 In: The Journal of clinical endocrinology and metabolism vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. [electronic resource] by 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 Producer: 20150227 In: American journal of human genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation. [electronic resource] by Osborne, Brenna Yao, Tsun-Wen Wang, Xin Maggie Chen, Yiqian Kotan, L Damla Nadvi, Naveed A Herdem, Mustafa McCaughan, Geoffrey W Allen, John D Yu, Denise M T Topaloglu, A Kemal Gorrell, Mark D Producer: 20140724 In: Biochimica et biophysica acta vol. 1844 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. [electronic resource] by 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 Producer: 20170412 In: Journal of clinical research in pediatric endocrinology vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. [electronic resource] by 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 Producer: 20090402 In: Nature genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor. [electronic resource] by 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 Producer: 20091020 In: The Journal of clinical endocrinology and metabolism vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. [electronic resource] by 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 Producer: 20150122 In: The Journal of clinical endocrinology and metabolism vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. [electronic resource] by 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 Producer: 20110118 In: American journal of human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. [electronic resource] by Senée, Valérie Vattem, Krishna M Delépine, Marc Rainbow, Lynn A Haton, Céline Lecoq, Annick Shaw, Nick J Robert, Jean-Jacques Rooman, Raoul Diatloff-Zito, Catherine Michaud, Jacques L Bin-Abbas, Bassan Taha, Doris Zabel, Bernard Franceschini, Piergiorgio Topaloglu, A Kemal Lathrop, G Mark Barrett, Timothy G Nicolino, Marc Wek, Ronald C Julier, Cécile Producer: 20040916 In: Diabetes vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Quantitation of fibroblast activation protein (FAP)-specific protease activity in mouse, baboon and human fluids and organs. [electronic resource] by 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 Producer: 20131227 In: FEBS open bio vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)