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sunay usluer
sunay usluer
Wellcome Sanger Institute, Cambridge, UK
Verified email at boun.edu.tr
Title
Cited by
Cited by
Year
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
832016
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
162017
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
142016
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
142010
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
82019
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
62017
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
32022
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
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