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	41.	Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. [electronic resource] by Ozbek, M Nuri Senée, Valérie Aydemir, Sehnaz Kotan, L Damla Mungan, Neslihan O Yuksel, Bilgin Julier, Cécile Topaloglu, A Kemal Producer: 20120112 In: Pediatric diabetes vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. [electronic resource] by Mengen, Eda Tunc, Selma Kotan, L Damla Nalbantoglu, Ozlem Demir, Korcan Gurbuz, Fatih Turan, Ihsan Seker, Gül Yuksel, Bilgin Topaloglu, A Kemal Producer: 20161102 In: Hormone research in paediatrics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. [electronic resource] by Akkuş, Gamze Kotan, Leman Damla Durmaz, Erdem Mengen, Eda Turan, İhsan Ulubay, Ayça Gürbüz, Fatih Yüksel, Bilgin Tetiker, Tamer Topaloğlu, A Kemal Producer: 20180319 In: Journal of clinical research in pediatric endocrinology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	44.	CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. [electronic resource] by Turan, Ihsan Hutchins, B Ian Hacihamdioglu, Bulent Kotan, L Damla Gurbuz, Fatih Ulubay, Ayca Mengen, Eda Yuksel, Bilgin Wray, Susan Topaloglu, A Kemal Producer: 20170911 In: The Journal of clinical endocrinology and metabolism vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. [electronic resource] by Demirbilek, Huseyin Ozbek, M Nuri Demir, Korcan Kotan, L Damla Cesur, Yasar Dogan, Murat Temiz, Fatih Mengen, Eda Gurbuz, Fatih Yuksel, Bilgin Topaloglu, A Kemal Producer: 20151221 In: Clinical endocrinology vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	Inactivating KISS1 mutation and hypogonadotropic hypogonadism. [electronic resource] by Topaloglu, A Kemal Tello, Javier A Kotan, L Damla Ozbek, Mehmet N Yilmaz, M Bertan Erdogan, Seref Gurbuz, Fatih Temiz, Fatih Millar, Robert P Yuksel, Bilgin Producer: 20120224 In: The New England journal of medicine vol. 366 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. [electronic resource] by 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 Producer: 20170605 In: Endocrinology vol. 157 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	P450c17 deficiency: clinical and molecular characterization of six patients. [electronic resource] by Rosa, S Duff, C Meyer, M Lang-Muritano, M Balercia, G Boscaro, M Topaloglu, A Kemal Mioni, R Fallo, F Zuliani, L Mantero, F Schoenle, E J Biason-Lauber, A Producer: 20070510 In: The Journal of clinical endocrinology and metabolism vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	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)
	50.	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)
	51.	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)
	52.	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)
	53.	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)
	54.	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)
	55.	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)
	56.	The effects of neurokinin B upon gonadotrophin release in male rodents. [electronic resource] by Corander, M P Challis, B G Thompson, E L Jovanovic, Z Loraine Tung, Y C Rimmington, D Huhtaniemi, I T Murphy, K G Topaloglu, A K Yeo, G S H O'Rahilly, S Dhillo, W S Semple, R K Coll, A P Producer: 20100805 In: Journal of neuroendocrinology vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	57.	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)
	58.	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)
	59.	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)
	60.	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)

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