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	1.	Combined occurrence of Alström syndrome and bronchiectasis. [electronic resource] by Kaya, Avni Orbak, Zerrin Cayir, Atilla Döneray, Hakan Tasdemir, Sener Ozantürk, Aysegül Bingöl, Fatih Producer: 20140429 In: Pediatrics vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. [electronic resource] by Dündar, Halil Özgül, Riza Köksal Güzel-Ozantürk, Ayşegül Dursun, Ali Sivri, Serap Aliefendioğlu, Didem Coşkun, Turgay Tokatli, Ayşegül Producer: 20121203 In: Molecular genetics and metabolism vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations. [electronic resource] by Özgül, Rıza Köksal Güzel-Ozantürk, Ayşegül Dündar, Halil Yücel-Yılmaz, Didem Coşkun, Turgay Sivri, Serap Aydoǧdu, Sultan Tokatlı, Ayşegül Dursun, Ali Producer: 20140421 In: Journal of human genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance. [electronic resource] by Güzel-Ozantürk, Ayşegül Ozgül, Rıza Köksal Unal, Ozlem Hişmi, Burcu Aydın, Halil İbrahim Sivri, Serap Tokatlı, Ayşegül Coşkun, Turgay Aksöz, Erol Dursun, Ali Producer: 20130925 In: Gene vol. 521 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Immunodeficiency in a Child with Alström Syndrome. [electronic resource] by Ozdemir, Taha Resid Karaca, Neslihan Edeer Marshall, Jan Davis Kutukculer, Necil Aksu, Guzide Ozgul, Riza Koksal Ozanturk, Aysegul Isik, Esra Akgun, Bilcag Ozdemir, Hamiyet Hekimci Darcan, Sukran Ozkinay, Ferda Cogulu, Ozgur Producer: 20181211 In: Indian journal of pediatrics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. [electronic resource] by Ozantürk, Ayşegül Davis, Erica E Sabo, Aniko Weiss, Marjan M Muzny, Donna Dugan-Perez, Shannon Sistermans, Erik A Gibbs, Richard A Özgül, Köksal R Yalnızoglu, Dilek Serdaroglu, Esra Dursun, Ali Katsanis, Nicholas Producer: 20160505 In: Cold Spring Harbor molecular case studies vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. [electronic resource] by Roberson, Elle C Dowdle, William E Ozanturk, Aysegul Garcia-Gonzalo, Francesc R Li, Chunmei Halbritter, Jan Elkhartoufi, Nadia Porath, Jonathan D Cope, Heidi Ashley-Koch, Allison Gregory, Simon Thomas, Sophie Sayer, John A Saunier, Sophie Otto, Edgar A Katsanis, Nicholas Davis, Erica E Attié-Bitach, Tania Hildebrandt, Friedhelm Leroux, Michel R Reiter, Jeremy F Producer: 20150622 In: The Journal of cell biology vol. 209 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. [electronic resource] by Ozantürk, Ayşegül Marshall, Jan D Collin, Gayle B Düzenli, Selma Marshall, Robert P Candan, Şükrü Tos, Tülay Esen, İhsan Taşkesen, Mustafa Çayır, Atilla Öztürk, Şükrü Üstün, İhsan Ataman, Esra Karaca, Emin Özdemir, Taha Reşid Erol, İlknur Eroğlu, Fehime Kara Torun, Deniz Parıltay, Erhan Yılmaz-Güleç, Elif Karaca, Ender Atabek, M Emre Elçioğlu, Nursel Satman, İlhan Möller, Claes Muller, Jean Naggert, Jürgen K Özgül, Rıza Köksal Producer: 20150731 In: Journal of human genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. [electronic resource] by Ozantürk, Ayşegül Marshall, Jan D Collin, Gayle B Düzenli, Selma Marshall, Robert P Candan, Şükrü Tos, Tülay Esen, İhsan Taşkesen, Mustafa Çayır, Atilla Öztürk, Şükrü Üstün, İhsan Ataman, Esra Karaca, Emin Özdemir, Taha Reşid Erol, İlknur Eroğlu, Fehime Kara Torun, Deniz Parıltay, Erhan Yılmaz-Güleç, Elif Karaca, Ender Atabek, M Emre Elçioğlu, Nursel Satman, İlhan Möller, Claes Muller, Jean Naggert, Jürgen K Özgül, Rıza Köksal Producer: 20151228 In: Journal of human genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. [electronic resource] by Frints, Suzanna G M Ozanturk, Aysegul Rodríguez Criado, Germán Grasshoff, Ute de Hoon, Bas Field, Michael Manouvrier-Hanu, Sylvie E Hickey, Scott Kammoun, Molka Gripp, Karen W Bauer, Claudia Schroeder, Christopher Toutain, Annick Mihalic Mosher, Theresa Kelly, Benjamin J White, Peter Dufke, Andreas Rentmeester, Eveline Moon, Sungjin Koboldt, Daniel C van Roozendaal, Kees E P Hu, Hao Haas, Stefan A Ropers, Hans-Hilger Murray, Lucinda Haan, Eric Shaw, Marie Carroll, Renee Friend, Kathryn Liebelt, Jan Hobson, Lynne De Rademaeker, Marjan Geraedts, Joep Fryns, Jean-Pierre Vermeesch, Joris Raynaud, Martine Riess, Olaf Gribnau, Joost Katsanis, Nicholas Devriendt, Koen Bauer, Peter Gecz, Jozef Golzio, Christelle Gontan, Cristina Kalscheuer, Vera M Producer: 20200504 In: Molecular psychiatry vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)