Takip et
Can Kosukcu
Can Kosukcu
M.Sc. Bioinformatics, Hacettepe University
hacettepe.edu.tr üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD
EZ Taskiran, E Korkmaz, S Gucer, C Kosukcu, F Kaymaz, C Koyunlar, ...
Journal of the American Society of Nephrology 25 (8), 1653-1661, 2014
452014
Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: first results from Turkey
N Emiralioğlu, EZ Taşkıran, C Koşukcu, E Bilgiç, P Atilla, B Kaya, ...
Pediatric Pulmonology 55 (2), 383-393, 2020
362020
Whole exome sequencing in early-onset systemic lupus erythematosus
ED Batu, C Koşukcu, E Taşkıran, S Sahin, S Akman, B Sözeri, E Ünsal, ...
The Journal of Rheumatology 45 (12), 1671-1679, 2018
332018
HERC1 mutations in idiopathic intellectual disability
GE Utine, EZ Taşkıran, C Koşukcu, B Karaosmanoğlu, N Güleray, ...
European Journal of Medical Genetics 60 (5), 279-283, 2017
332017
Neonatal-Onset Recurrent Guillain–Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency
TH Ardicli D, Taskiran EZ, Kosukcu C, Temucin C, Oguz KK, Haliloglu G ...
Neuropediatrics, 2017
182017
The effects of larval diet restriction on developmental time, preadult survival, and wing length in Drosophila melanogaster
P Güler, N Ayhan, CAN Koşukcu, BŞ ÖNDER
Turkish Journal of Zoology 39 (3), 395-403, 2015
172015
Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome
PO Simsek‐Kiper, E Taskiran, C Kosukcu, UE Arslan, V Cormier‐Daire, ...
American Journal of Medical Genetics Part A 179 (7), 1157-1172, 2019
142019
Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?
C Kosukcu, EZ Taskiran, ED Batu, E Sag, Y Bilginer, M Alikasifoglu, ...
Rheumatology 60 (2), 607-616, 2021
122021
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features
E Kındış, PÖ Simsek‐Kiper, C Koşukcu, EZ Taşkıran, R Göçmen, E Utine, ...
American Journal of Medical Genetics Part A 185 (6), 1888-1896, 2021
82021
A novel missense LIG4 mutation in a patient with a phenotype mimicking Behcet’s disease
EZ Taskiran, HE Sonmez, C Kosukcu, E Tavukcuoglu, G Yazici, ...
Journal of Clinical Immunology 39 (1), 99-105, 2019
82019
Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome
EZ Taskiran, B Karaosmanoglu, C Koşukcu, ÖA Doğan, ...
American Journal of Medical Genetics Part A 173 (12), 3143-3152, 2017
82017
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings
Y Yıldız, C Koşukcu, D Aygün, M Akçaboy, FZ Öztek Çelebi, Y Taşcı Yıldız, ...
Clinical Genetics 100 (3), 308-317, 2021
72021
Lymphocyte subgroups and KREC numbers in common variable immunodeficiency: a single center study
I Yaz, B Ozbek, YY Ng, PG Cetinkaya, SO Halacli, C Tan, M Kasikci, ...
Journal of clinical immunology 40 (3), 494-502, 2020
62020
Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability
EZ Taşkıran, B Karaosmanoğlu, C Koşukcu, G Ürel‐Demir, ...
Journal of Intellectual Disability Research 65 (6), 577-588, 2021
52021
Atypical presentation of Sengers syndrome: a novel mutation revealed with postmortem genetic testing
N Guleray, C Kosukcu, ZE Taskiran, PO Simsek Kiper, GE Utine, S Gucer, ...
Fetal and pediatric pathology 39 (2), 163-171, 2020
42020
Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum
ÖA Doğan, GÜ Demir, C Kosukcu, EZ Taskiran, PÖ Simsek-Kiper, ...
European Journal of Medical Genetics 62 (6), 103535, 2019
42019
Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis
EZ Taşkıran, HE Sönmez, DÇ Ayvaz, C Koşukcu, ED Batu, S Esenboğa, ...
Clinical immunology (Orlando, Fla.) 187, 92-94, 2018
42018
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c. 270delC and a novel c. 408C> A variant
BB Gürbüz, DY Yilmaz, RK Özgül, C Koşukcu, A Dursun, HS Sivri, ...
The Turkish Journal of Pediatrics 63 (4), 691-696, 2021
32021
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia
D Vuralli, C Kosukcu, E Taskiran, PO Simsek-Kiper, GE Utine, ...
Molecular Syndromology 11 (4), 207-216, 2020
32020
The correlation between clinical characteristics and molecular genetic analysis results of primary ciliary dyskinesia patients: Hacettepe University Experience
N Emiralioğlu, E Taskiran, C Kosukcu, E Bilgic, P Atilla, B Kaya, ...
European Respiratory Journal 54 (suppl 63), 2019
22019
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Makaleler 1–20