Nilay Gunes

Cerrahpasa, Turkey

Last Updated: 09/26/2026

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Found 36 publications

Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome in 3 Children: Clinical and Radiological Clues.

Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome in 3 Children: Clinical and Radiological Clues.

Journal: Turkish archives of pediatrics

Published: August 01, 2026

The Clinical and Molecular Spectrum of Turkish Patients with Syndromic Craniosynostosis: A Single Center Study.

The Clinical and Molecular Spectrum of Turkish Patients with Syndromic Craniosynostosis: A Single Center Study.

Journal: Turkish archives of pediatrics

Published: May 05, 2026

Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4.

Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4.

Journal: Turkish archives of pediatrics

Published: April 27, 2026

Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease.

Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease.

Journal: Diagnostics (Basel, Switzerland)

Published: April 09, 2026

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Journal: European journal of pediatrics

Published: March 27, 2026

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.

Journal: Genes

Published: March 22, 2026

Long-Term Follow-Up of a Patient with a Novel Homozygous ASTN1 Variant: A Case Report.

Long-Term Follow-Up of a Patient with a Novel Homozygous ASTN1 Variant: A Case Report.

Journal: Neurology international

Published: March 19, 2026

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.

Journal: Clinical genetics

Published: February 10, 2026

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Journal: Calcified tissue international

Published: February 05, 2025

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Journal: Pediatric radiology

Published: August 01, 2024

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Journal: Journal of medical genetics

Published: July 28, 2023

Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

Journal: Turkish archives of pediatrics

Published: June 15, 2023

Showing 1-12 of 36

Last Updated: 09/26/2026