Can Kosukcu
Hacettepe Üniversitesi
H-index: 11
Asia-Turkey
Top articles of Can Kosukcu
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Kidney international
2024/4/1
New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant
American Journal of Medical Genetics Part A
2024/3
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
medRxiv
2023/3/22
A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT)
Clinical Genetics
2023/12
P116 Whole-body muscle magnetic resonance imaging (MRI) in PAX7-congenital myopathy (CM)
Neuromuscular Disorders
2023/10/1
Comparing the melissopalynological and next generation sequencing (NGS) methods for the determining of botanical origin of honey
Food Control
2023/6/1
Can Kosukcu
H-Index: 7
Cagatay Karaaslan
H-Index: 12
Homozygous missense epithelial cell adhesion molecule variant in a patient with congenital tufting enteropathy and literature review
2022/11
Investigation of genetic causes in a developmental disorder: oculoauriculovertebral Spectrum
The Cleft Palate-Craniofacial Journal
2022/9
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity
European Journal of Medical Genetics
2021/11/1
One disease with two faces: Semidominant inheritance of a novel HTRA1 mutation in a consanguineous family
Journal of Stroke and Cerebrovascular Diseases
2021/9/1
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings
Clinical Genetics
2021/9
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c. 270delC and a novel c. 408C> A variant
The Turkish Journal of Pediatrics
2021/8/25
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: a rare disorder with neurologic regression and skeletal features
American Journal of Medical Genetics Part A
2021/6
Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability
Journal of Intellectual Disability Research
2021/6
Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey
Immunological Investigations
2021/5/19
Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?
Rheumatology
2021/2/1
Hyperinsulinemic hypoglycemia in a patient with Costello syndrome: An etiology to consider in hypoglycemia
Molecular Syndromology
2020/9/16
Recurrent demyelinating episodes as sole manifestation of inherited CD59 deficiency
Neuropediatrics
2020/6
Lymphocyte subgroups and KREC numbers in common variable immunodeficiency: a single center study
Journal of clinical immunology
2020/4
Atypical presentation of Sengers syndrome: a novel mutation revealed with postmortem genetic testing
Fetal and pediatric pathology
2020/3/3
Can Kosukcu
H-Index: 7
Aysegul Tokatli
H-Index: 14
Koray Boduroglu
H-Index: 17
Mehmet Alikasifoglu
H-Index: 14
