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	1.	A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation. [electronic resource] by Gündüz, Tuncay Demirkol, Yasemin Doğan, Özlem Demir, Serkan Akçakaya, Nihan Hande Producer: 20191223 In: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes. [electronic resource] by Tanatar, Ayşe Karadağ, Şerife Gül Sözeri, Betül Sönmez, Hafize Emine Çakan, Mustafa Kendir Demirkol, Yasemin Aktay Ayaz, Nuray Producer: 20210702 In: Journal of clinical immunology vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Novel and recurrent [electronic resource] by Guo, Long Elcioglu, Nursel H Wang, Zheng Demirkol, Yasemin K Isguven, Pinar Matsumoto, Naomichi Nishimura, Gen Miyake, Noriko Ikegawa, Shiro Publication details: Human genome variation 2017 In: Human genome variation vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. [electronic resource] by Guo, Long Elcioglu, Nursel H Iida, Aritoshi Demirkol, Yasemin K Aras, Seda Matsumoto, Naomichi Nishimura, Gen Miyake, Noriko Ikegawa, Shiro Producer: 20170515 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. [electronic resource] by Bramswig, Nuria C Lüdecke, Hermann-Josef Hamdan, Fadi F Altmüller, Janine Beleggia, Filippo Elcioglu, Nursel H Freyer, Catharine Gerkes, Erica H Demirkol, Yasemin Kendir Knupp, Kelly G Kuechler, Alma Li, Yun Lowenstein, Daniel H Michaud, Jacques L Park, Kristen Stegmann, Alexander P A Veenstra-Knol, Hermine E Wieland, Thomas Wollnik, Bernd Engels, Hartmut Strom, Tim M Kleefstra, Tjitske Wieczorek, Dagmar Producer: 20170814 In: Human genetics vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)