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CENGIZ YALCINKAYA
CENGIZ YALCINKAYA
未知所在单位机构
在 iuc.edu.tr 的电子邮件经过验证
标题
引用次数
引用次数
年份
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
K Bilgüvar, AK Öztürk, A Louvi, KY Kwan, M Choi, B Tatlı, D Yalnızoğlu, ...
Nature 467 (7312), 207-210, 2010
6282010
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ...
Cell 157 (3), 651-663, 2014
2932014
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
K Bilguvar, NK Tyagi, C Ozkara, B Tuysuz, M Bakircioglu, M Choi, S Delil, ...
Proceedings of the National Academy of Sciences 110 (9), 3489-3494, 2013
2222013
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
C Depienne, M Bugiani, C Dupuits, D Galanaud, V Touitou, N Postma, ...
The Lancet Neurology 12 (7), 659-668, 2013
1912013
Anxiety and depression in children with epilepsy and their mothers
O Baki, A Erdogan, O Kantarci, G Akisik, L Kayaalp, C Yalcinkaya
Epilepsy & Behavior 5 (6), 958-964, 2004
1582004
Whole exome sequencing in patients with white matter abnormalities
A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ...
Annals of neurology 79 (6), 1031-1037, 2016
1552016
Recessive LAMC3 mutations cause malformations of occipital cortical development
T Barak, KY Kwan, A Louvi, V Demirbilek, S Saygı, B Tüysüz, M Choi, ...
Nature genetics 43 (6), 590-594, 2011
1322011
Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel
M Topçu, C Gartioux, F Ribierre, C Yalçinkaya, E Tokus, N Öztekin, ...
The American Journal of Human Genetics 66 (2), 733-739, 2000
1252000
Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children
SP Toelle, C Yalcinkaya, N Kocer, T Deonna, WCG Overweg-Plandsoen, ...
Neuropediatrics 33 (04), 209-214, 2002
1092002
L-2-hydroxyglutaric aciduria: a report of 29 patients
M Topçu, M Kesimer, D Yalnizoğlu, G Turanli, H Topaloğlu, B Anlar, ...
The Turkish journal of pediatrics 47 (1), 1-7, 2005
882005
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia
JO Sass, A Gunduz, CAR Funayama, B Korkmaz, KGD Pinto, B Tuysuz, ...
Brain and Development 32 (7), 544-549, 2010
842010
Beneficial effects of everolimus on autism and attention-deficit/hyperactivity disorder symptoms in a group of patients with tuberous sclerosis complex
A Kilincaslan, BE Kok, P Tekturk, C Yalcinkaya, C Ozkara, Z Yapici
Journal of Child and Adolescent Psychopharmacology 27 (4), 383-388, 2017
722017
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features
B Tüysüz, K Bilguvar, N Koçer, C Yalçınkaya, O Çağlayan, E Gül, S Şahin, ...
American Journal of Medical Genetics Part A 164 (7), 1677-1685, 2014
722014
Megalencephalic leukoencephalopathy with subcortical cysts: characterization of disease variants
EMC Hamilton, P Tekturk, F Cialdella, DF van Rappard, NI Wolf, ...
Neurology 90 (16), e1395-e1403, 2018
602018
Clinical characteristics of 49 patients with psychogenic movement disorders in a tertiary clinic in Turkey
S Ertan, D Uluduz, S Özekmekçi, G Kiziltan, T Ertan, C Yalçinkaya, ...
Movement disorders: official journal of the Movement Disorder Society 24 (5 …, 2009
592009
MRI and MRS in HMG-CoA lyase deficiency
C Yalçınkaya, A Dinçer, E Gündüz, C Fıçıcıoğlu, N Koçer, A Aydın
Pediatric neurology 20 (5), 375-380, 1999
581999
Identification of seven novel mutations in the GAN gene
P Bomont, C Ioos, C Yalcinkaya, R Korinthenberg, JM Vallat, S Assami, ...
Human mutation 21 (4), 446-446, 2003
502003
Inherited metabolic disorders in T urkish patients with autism spectrum disorders
E Kiykim, CA Zeybek, T Zubarioglu, S Cansever, C Yalcinkaya, ...
Autism Research 9 (2), 217-223, 2016
482016
Atypical MRI findings in Canavan disease: a patient with a mild course
C Yalcinkaya, G Benbir, GS Salomons, E Karaarslan, MO Rolland, ...
Neuropediatrics 36 (05), 336-339, 2005
482005
Ictal and interictal SPECT findings in childhood absence epilepsy
SN Yeni, L Kabasakal, C Yalçinkaya, C Nisli, A Dervent
Seizure 9 (4), 265-269, 2000
462000
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