Guven Toksoy

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 52 publications

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

Journal: Clinical genetics
Published: April 15, 2026

Evaluation of the Impact of a PUS7 Gene Variant on Dental Development: A Rare Case Report.

Evaluation of the Impact of a PUS7 Gene Variant on Dental Development: A Rare Case Report.

Journal: Molecular syndromology
Published: February 11, 2026

Hemodynamic and microvascular abnormalities in P450 oxidoreductase deficiency: evidence for COX-dependent dysfunction.

Hemodynamic and microvascular abnormalities in P450 oxidoreductase deficiency: evidence for COX-dependent dysfunction.

Journal: European journal of endocrinology
Published: December 19, 2025

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

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

Journal: Human genomics
Published: December 11, 2025

Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet-Biedl Syndrome: a pilot study.

Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet-Biedl Syndrome: a pilot study.

Journal: Orphanet journal of rare diseases
Published: November 19, 2025

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

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.

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

Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency.

Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency.

Journal: The Journal of clinical endocrinology and metabolism
Published: June 19, 2025

Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.

Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.

Journal: Endocrine
Published: May 04, 2025

Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.

Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.

Journal: Clinical genetics
Published: September 11, 2024

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

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

Journal: Molecular syndromology
Published: August 28, 2024

Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.

Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.

Journal: Odontology
Published: August 03, 2024
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Last Updated: 09/26/2026