Merve S. Guvenc

Izmir, Turkey

Last Updated: 09/26/2026

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Found 15 publications

Genotype-phenotype correlations in children with short stature: results of targeted next-generation sequencing.

Genotype-phenotype correlations in children with short stature: results of targeted next-generation sequencing.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 21, 2026

Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.

Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.

Journal: Annals of human genetics

Published: May 27, 2025

Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.

Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 23, 2023

Long-term follow-up of alkaptonuria patients: single center experience.

Long-term follow-up of alkaptonuria patients: single center experience.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 02, 2022

Experiences in the molecular genetic and histopathological evaluation of calpainopathies.

Experiences in the molecular genetic and histopathological evaluation of calpainopathies.

Journal: Neurogenetics

Published: December 16, 2021

Response to Letter to the Editor: "Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet-Biedl syndrome".

Response to Letter to the Editor: "Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet-Biedl syndrome".

Journal: Annals of human genetics

Published: January 29, 2021

Early and late diagnoses of 17β-Hydroxysteroid dehydrogenase type-3 deficiency in two unrelated patients.

Early and late diagnoses of 17β-Hydroxysteroid dehydrogenase type-3 deficiency in two unrelated patients.

Journal: Andrologia

Published: January 02, 2021

Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study.

Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study.

Journal: Turkish journal of urology

Published: July 29, 2019

The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci.

The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci.

Journal: Journal of pediatric genetics

Published: July 09, 2019

A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation.

A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation.

Journal: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

Published: June 27, 2019

cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies.

cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies.

Journal: Journal of breath research

Published: April 11, 2019

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Journal: Turkish archives of otorhinolaryngology

Published: March 31, 2019

Showing 1-12 of 15

Last Updated: 09/26/2026