Beyhan Tuysuz-Beyer

Cerrahpasa, Turkey

Last Updated: 09/26/2026

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Found 139 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

Prenatal Diagnosis of Poretti-Boltshauser Syndrome: A Case of Live Birth with Confirmed LAMA1 Variants.

Prenatal Diagnosis of Poretti-Boltshauser Syndrome: A Case of Live Birth with Confirmed LAMA1 Variants.

Journal: Cerebellum (London, England)

Published: March 12, 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

Cell Trafficking Disorders Play an Important Role in the Pathogenesis of Skeletal Dysplasias.

Cell Trafficking Disorders Play an Important Role in the Pathogenesis of Skeletal Dysplasias.

Journal: Turkish archives of pediatrics

Published: November 19, 2025

Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2.

Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2.

Journal: Journal of human genetics

Published: July 20, 2025

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

Journal: American journal of medical genetics. Part A

Published: April 26, 2025

Showing 1-12 of 139

Last Updated: 09/26/2026