Yasemin Demirkol-Kendir

Umraniye, 34764, Turkey

Last Updated: 09/26/2026

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Found 36 publications

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.

Journal: Genes

Published: August 27, 2025

Secondary findings in pediatric genomic testing: clinical insights from Turkey.

Secondary findings in pediatric genomic testing: clinical insights from Turkey.

Journal: European journal of pediatrics

Published: June 05, 2025

A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2.

A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2.

Journal: Molecular syndromology

Published: February 21, 2025

Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum

Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum

Journal: Journal of clinical research in pediatric endocrinology

Published: January 24, 2025

Atypical Mycobacterial Pneumonia in 2 Siblings with a Novel Hypomorphic NEMO/IKBKG Mutation.

Atypical Mycobacterial Pneumonia in 2 Siblings with a Novel Hypomorphic NEMO/IKBKG Mutation.

Journal: Turkish archives of pediatrics

Published: November 14, 2024

Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels.

Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels.

Journal: Molecular syndromology

Published: November 10, 2024

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Journal: The Journal of experimental medicine

Published: April 22, 2024

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.

Journal: The Turkish journal of pediatrics

Published: March 31, 2024

Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.

Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.

Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

Published: February 16, 2024

First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1.

First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1.

Journal: Molecular syndromology

Published: December 06, 2023

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.

Journal: Journal of clinical immunology

Published: November 13, 2023

Evaluation of common NLRP3 Q703K variant in pediatric patients with autoinflammatory disease: CAPS and PFAPA.

Evaluation of common NLRP3 Q703K variant in pediatric patients with autoinflammatory disease: CAPS and PFAPA.

Journal: The Turkish journal of pediatrics

Published: September 04, 2023

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Last Updated: 09/26/2026