Nuket Kutlay-Yurur
Ankara, Turkey
Last Updated: 09/26/2026
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Found 13 publications
Pontocerebellar Hypoplasia Type 11 Case with a Novel Variant of TBC1D23 Gene: Case Report and Literature Review.
Journal: Cerebellum (London, England)
Published: February 02, 2026
A Novel Compound Heterozygous CYP27A1 Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family.
Journal: Molecular syndromology
Published: February 03, 2025
Positron Emission Tomography Imaging and HScore-Based Diagnosis in Two Children with Malignancy-Associated Hemophagocytic Syndrome: Anaplastic Large-Cell Lymphoma and Precursor B-acute Lymphoblastic Leukemia.
Journal: Turkish archives of pediatrics
Published: January 15, 2025
Diagnostic challenges in a family with dominant dystrophic epidermolysis bullosa and isolated hereditary nail disorder: paternal gonosomal mosaicism for COL7A1 variant and maternal RSPO4 variant.
Journal: Clinical and experimental dermatology
Published: April 05, 2024
A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings.
Journal: Cytogenetic and genome research
Published: May 26, 2022
The association between telomere length and ischemic stroke risk and phenotype.
Journal: Scientific reports
Published: January 19, 2021
Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer.
Journal: Cytogenetic and genome research
Published: December 06, 2019
Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.
Journal: Molecular cytogenetics
Published: April 04, 2019
Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment.
Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology
Published: February 10, 2017
Distal trisomy 10q due to maternal insertional translocation (15;10): A case report and review of literature.
Journal: Genetic counseling (Geneva, Switzerland)
Published: January 01, 2016
Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat.
Journal: Genetic counseling (Geneva, Switzerland)
Published: May 03, 2014
Last Updated: 09/26/2026