Koray Boduroglu

Ankara, Turkey

Last Updated: 09/26/2026

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Found 100 publications

Prof. Dr. Enver Hasanoğlu (1946-2026).

Prof. Dr. Enver Hasanoğlu (1946-2026).

Journal: The Turkish journal of pediatrics

Published: April 17, 2026

Professional, educational and psychosocial impacts of the COVID-19 pandemic on pediatricians.

Professional, educational and psychosocial impacts of the COVID-19 pandemic on pediatricians.

Journal: Postgraduate medicine

Published: August 23, 2024

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.

Journal: Molecular syndromology

Published: December 18, 2023

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.

Journal: Molecular syndromology

Published: October 05, 2023

Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.

Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.

Journal: The Turkish journal of pediatrics

Published: August 13, 2023

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.

Journal: Molecular syndromology

Published: March 17, 2023

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

Journal: European journal of medical genetics

Published: January 31, 2023

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Journal: Journal of sleep research

Published: January 10, 2023

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.

Journal: European journal of medical genetics

Published: December 15, 2022

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: November 25, 2022

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.

Journal: American journal of medical genetics. Part A

Published: September 11, 2022

Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.

Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.

Journal: Pediatric gastroenterology, hepatology & nutrition

Published: April 20, 2022

Showing 1-12 of 100

Last Updated: 09/26/2026