Birsen E. Karaman - Publications

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal: Journal of medical genetics

Published: December 26, 2025

Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.

Journal: Human genomics

Published: December 11, 2025

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Journal: Prenatal diagnosis

Published: December 09, 2025

Olfactory Receptor Gene Deletions: A Novel Genetic Findings in Idiopathic Prepubertal Gynecomastia and Juvenile Macromastia.

Journal: Hormone research in paediatrics

Published: September 08, 2025

Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: August 29, 2025

Awareness and attitudes of pregnant women about prenatal screening and diagnostic tests from Türkiye.

Journal: Journal of community genetics

Published: March 27, 2025

Discovery of novel candidate genes for congenital diaphragmatic hernia via whole exome sequencing.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: March 23, 2025

Diagnostic contribution of conventional and molecular karyotyping in congenital diaphragmatic hernia related copy number variations.

Journal: Taiwanese journal of obstetrics & gynecology

Published: March 19, 2025

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Journal: Turkish archives of pediatrics

Published: March 17, 2025

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Journal: medRxiv : the preprint server for health sciences

Published: November 06, 2024

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.

Journal: Molecular syndromology

Published: August 28, 2024

A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.

Journal: Molecular syndromology

Published: March 21, 2024