Pitfalls in genetic testing: the story of missed SCN1A mutations T Djémié, S Weckhuysen, S von Spiczak, GL Carvill, J Jaehn, ... Molecular genetics & genomic medicine 4 (4), 457-464, 2016 | 83 | 2016 |
Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy D Turkdogan, S Usluer, F Akalin, U Agyuz, ES Aslan Seizure-European Journal of Epilepsy 50, 171-172, 2017 | 16 | 2017 |
SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations S Usluer, S Salar, M Arslan, U Yiş, B Kara, P Tektürk, B Baykan, C Meral, ... Seizure-European Journal of Epilepsy 39, 34-43, 2016 | 14 | 2016 |
Characterization of the genetic basis of FXI deficiency in two Turkish patients E Berber, V Rimoldi, S Usluer, S Aksu, Y Pekcelen, SH Cağlayan, S Duga Haemophilia 16 (3), 564-566, 2010 | 14 | 2010 |
Possible role of SCN4A skeletal muscle mutation in apnea during seizure D Türkdoğan, E Matthews, S Usluer, A Gündoğdu, K Uluç, R Mannikko, ... Epilepsia Open 4 (3), 498-503, 2019 | 8 | 2019 |
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE) S Usluer, MA Kayserili, AG Eken, U Yiş, C Leu, J Altmüller, H Thiele, ... European Journal of Paediatric Neurology 21 (5), 773-782, 2017 | 6 | 2017 |
Optimised whole-genome CRISPR interference screens identify ARID1A-dependent growth regulators in human induced pluripotent stem cells S Usluer, P Hallast, L Crepaldi, Y Zhou, K Urgo, C Dincer, J Su, G Noell, ... bioRxiv, 2022 | 3 | 2022 |
Late-Onset Myoclonic Epilepsy in Down Syndrome: Investigation of EPM1 Gene Mutations in two Cases E ALTINDAĞ, S Usluer, A Gundogdu, OG Tuncer, EN Vanli-Yavuz, ... Journal of Neurological Sciences (Turkish) 33 (1), 132-137, 2016 | | 2016 |
Down Sendromunda Geç Başlangıçlı Miyoklonik Epilepsi: İki Olguda EPM1 Gen Mutasyonunun Araştırılması E ALTINDAĞ, S USLUER, A GUNDOGDU, OG TUNCER, ... Journal of Neurological Sciences (Turkish) 33 (1), 132-137, 2016 | | 2016 |
INHERITED KCNQ2 DUPLICATION IN 3 PATIENTS WITH BENIGN NEONATAL SEIZURES S Usluer, D Turkdogan, HS Caglayan EPILEPSIA 56, 221-221, 2015 | | 2015 |
Down syndrome and late onset myoclonic epilepsy in Down syndrome: investigation of EPM1 gene mutations in two cases E Altindag, A Gundogdu, S Usluer, H Caglayan, B Baykan JOURNAL OF NEUROLOGY 261, S328-S328, 2014 | | 2014 |
Epilepsy 1 PP2050 E Altindag, A Gündogdu, S Usluer, H Caglayan, B Baykan | | 2014 |
T33p substitution and W519x mutation in two turkish patients with Fxi deficiency H Caglayan, S Usluer, Y Pekcelen, E Berber, S Aksu Journal of Thrombosis and Haemostasis 7, 541, 2009 | | 2009 |
Establishment of high resolution melting analysis for VWF gene mutation scanning in Turkish patients S Usluer, E Berber, S Caglayan, Y Pekcelen, A Unuvar HAEMOPHILIA 14, 70-70, 2008 | | 2008 |
Autosomal dominant inheritance of FXI deficiency in two Turkish patients S Usluer, E Berber, S Caolayan, Y Pekcelen, S Aksu HAEMOPHILIA 14, 2008 | | 2008 |