Cagri Gulec

Turgut Özal Millet Street Fatih, Türkiye
Fatih, 34093, Turkey

Last Updated: 09/26/2026

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Found 18 publications

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

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

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

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.

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 characteristics of 26 fetuses with lethal multiple congenital contractures.

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

Journal: Clinical genetics

Published: November 16, 2023

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Journal: Fetal diagnosis and therapy

Published: August 02, 2023

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.

Journal: Annals of human genetics

Published: June 09, 2023

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Journal: Frontiers in genetics

Published: March 21, 2023

Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.

Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.

Journal: Clinical genetics

Published: November 19, 2021

A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.

A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: July 14, 2020

Is the effect of rosuvastatin on ABCA1 transporter level direct or indirect?

Is the effect of rosuvastatin on ABCA1 transporter level direct or indirect?

Journal: International journal of cardiology

Published: August 27, 2019

A patient with early-onset Alzheimer's disease with a novel PSEN1 p.Leu424Pro mutation.

A patient with early-onset Alzheimer's disease with a novel PSEN1 p.Leu424Pro mutation.

Journal: Neurobiology of aging

Published: March 01, 2019

Showing 1-12 of 18

Last Updated: 09/26/2026