Your search returned 10 results.

Results
	1.	Parieto-occipital encephalomalacia in children; clinical and electrophysiological features of twenty-seven cases. [electronic resource] by Karaoğlu, Pakize Polat, Ayşe İpek Yiş, Uluç Hız, Semra Producer: 20150713 In: Journal of pediatric neurosciences vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	An infant with hypomotor seizures and cutaneous lesions. [electronic resource] by Yiş, Uluç Ayanoğlu, Müge Polat, Ayşe İpek Güleryüz, Handan Kurul, Semra Hız Producer: 20160822 In: Acta neurologica Belgica vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia. [electronic resource] by Polat, Ayşe İpek Yiş, Uluç Ayanoğlu, Müge Hız, Ayşe Semra Güleryüz, Handan Öztürk Atasoy, Tülay Boerkoel, Cornelius F Producer: 20170928 In: The Turkish journal of pediatrics vol. 57 Availability: No items available. Save to lists Add to cart (remove)
	4.	Identification of the largest homozygous glycine decarboxylase gene deletion in a Turkish infant. [electronic resource] by Gürsoy, Semra Ataman, Esra Bozkaya, Özlem Giray Köse, Engin Ayanoğlu, Müge Polat, Ayşe İpek Arslan, Nur Kurul, Semra Hız Erçal, Derya Publication details: Pediatrics and neonatology 12 2018 In: Pediatrics and neonatology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. [electronic resource] by Karaoglu, Pakize Quizon, Nicolas Pergande, Matthias Wang, Haicui Polat, Ayşe Ipek Ersen, Ayca Özer, Erdener Willkomm, Lena Hiz Kurul, Semra Heredia, Raúl Yis, Uluç Selcen, Duygu Çirak, Sebahattin Producer: 20170330 In: Brain & development vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights. [electronic resource] by Yiş, Uluç Becker, Kerstin Kurul, Semra Hız Uyanik, Gökhan Bayram, Erhan Haliloğlu, Göknur Polat, Ayşe İpek Ayanoğlu, Müge Okur, Derya Tosun, Ayşe Fahriye Serdaroğlu, Gül Yilmaz, Sanem Topaloğlu, Haluk Anlar, Banu Cirak, Sebahattin Engel, Andrew G Producer: 20180426 In: Journal of child neurology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. [electronic resource] by Karakaya, Mert Storbeck, Markus Strathmann, Eike A Delle Vedove, Andrea Hölker, Irmgard Altmueller, Janine Naghiyeva, Leyla Schmitz-Steinkrüger, Lea Vezyroglou, Katharina Motameny, Susanne Alawbathani, Salem Thiele, Holger Polat, Ayse Ipek Okur, Derya Boostani, Reza Karimiani, Ehsan Ghayoor Wunderlich, Gilbert Ardicli, Didem Topaloglu, Haluk Kirschner, Janbernd Schrank, Bertold Maroofian, Reza Magnusson, Olafur Yis, Uluc Nürnberg, Peter Heller, Raoul Wirth, Brunhilde Producer: 20190726 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). [electronic resource] by Sanyal, Mrinmoy Morimoto, Marie Baradaran-Heravi, Alireza Choi, Kunho Kambham, Neeraja Jensen, Kent Dutt, Suparna Dionis-Petersen, Kira Y Liu, Lan Xiang Felix, Katie Mayfield, Christy Dekel, Benjamin Bokenkamp, Arend Fryssira, Helen Guillen-Navarro, Encarna Lama, Giuliana Brugnara, Milena Lücke, Thomas Olney, Ann Haskins Hunley, Tracy E Polat, Ayse Ipek Yis, Uluc Bogdanovic, Radovan Mitrovic, Katarina Berry, Susan Najera, Lydia Najafian, Behzad Gentile, Mattia Nur Semerci, C Tsimaratos, Michel Lewis, David B Boerkoel, Cornelius F Producer: 20160314 In: Clinical immunology (Orlando, Fla.) vol. 161 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. [electronic resource] by Ghosh, Shereen G Becker, Kerstin Huang, He Dixon-Salazar, Tracy Chai, Guoliang Salpietro, Vincenzo Al-Gazali, Lihadh Waisfisz, Quinten Wang, Haicui Vaux, Keith K Stanley, Valentina Manole, Andreea Akpulat, Ugur Weiss, Marjan M Efthymiou, Stephanie Hanna, Michael G Minetti, Carlo Striano, Pasquale Pisciotta, Livia De Grandis, Elisa Altmüller, Janine Nürnberg, Peter Thiele, Holger Yis, Uluc Okur, Tuncay Derya Polat, Ayse Ipek Amiri, Nafise Doosti, Mohammad Karimani, Ehsan Ghayoor Toosi, Mehran B Haddad, Gabriel Karakaya, Mert Wirth, Brunhilde van Hagen, Johanna M Wolf, Nicole I Maroofian, Reza Houlden, Henry Cirak, Sebahattin Gleeson, Joseph G Publication details: American journal of human genetics 11 2018 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. [electronic resource] by Ghosh, Shereen G Becker, Kerstin Huang, He Dixon-Salazar, Tracy Chai, Guoliang Salpietro, Vincenzo Al-Gazali, Lihadh Waisfisz, Quinten Wang, Haicui Vaux, Keith K Stanley, Valentina Manole, Andreea Akpulat, Ugur Weiss, Marjan M Efthymiou, Stephanie Hanna, Michael G Minetti, Carlo Striano, Pasquale Pisciotta, Livia De Grandis, Elisa Altmüller, Janine Nürnberg, Peter Thiele, Holger Yis, Uluc Okur, Tuncay Derya Polat, Ayse Ipek Amiri, Nafise Doosti, Mohammad Karimani, Ehsan Ghayoor Toosi, Mehran B Haddad, Gabriel Karakaya, Mert Wirth, Brunhilde van Hagen, Johanna M Wolf, Nicole I Maroofian, Reza Houlden, Henry Cirak, Sebahattin Gleeson, Joseph G Publication details: American journal of human genetics 09 2018 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)