Durdugul Emecen-Ayyıldız

Izmir, Turkey

Last Updated: 09/26/2026

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Found 12 publications

Retrovesical Hybrid Benign Peripheral Nerve Sheath Tumor with a Heterozygous Germline NF2 Deletion in a 12-Year-Old Boy: A Case Report.

Retrovesical Hybrid Benign Peripheral Nerve Sheath Tumor with a Heterozygous Germline NF2 Deletion in a 12-Year-Old Boy: A Case Report.

Journal: Fetal and pediatric pathology

Published: August 20, 2026

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 13, 2025

Intravenous diazepam application in a departmental convulsive status epilepticus protocol with CYP2C19 polymorphisms: a pediatric prospective cohort study.

Intravenous diazepam application in a departmental convulsive status epilepticus protocol with CYP2C19 polymorphisms: a pediatric prospective cohort study.

Journal: BMC pharmacology & toxicology

Published: September 02, 2025

CARD9 Mutations in Patients with Invasive Fungal Infections.

CARD9 Mutations in Patients with Invasive Fungal Infections.

Journal: Mycopathologia

Published: July 31, 2025

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Journal: European journal of pediatrics

Published: August 07, 2024

Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders.

Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders.

Journal: Birth defects research

Published: May 30, 2024

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.

Journal: Molecular syndromology

Published: October 02, 2022

Retinal detachment in a child with Frank-ter Haar syndrome.

Retinal detachment in a child with Frank-ter Haar syndrome.

Journal: Ophthalmic genetics

Published: August 25, 2022

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 10, 2021

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Journal: Journal of clinical research in pediatric endocrinology

Published: September 16, 2020

Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome.

Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome.

Journal: Molecular syndromology

Published: May 05, 2020

Asthma control test and pediatric asthma quality of life questionnaire association in children with poor asthma control.

Asthma control test and pediatric asthma quality of life questionnaire association in children with poor asthma control.

Journal: The Turkish journal of pediatrics

Published: January 01, 2016

Showing 1-12 of 12

Last Updated: 09/26/2026