Deniz Torun

Ankara, Turkey

Last Updated: 09/26/2026

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Found 25 publications

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey.

Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey.

Journal: Clinical dysmorphology

Published: June 27, 2024

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Journal: Clinical genetics

Published: January 23, 2023

Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.

Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.

Journal: The Turkish journal of pediatrics

Published: October 28, 2022

Effect of antioxidant lycopene on human osteoblasts.

Effect of antioxidant lycopene on human osteoblasts.

Journal: Clinical oral investigations

Published: June 21, 2022

Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.

Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.

Journal: American journal of medical genetics. Part A

Published: November 11, 2020

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Journal: American journal of medical genetics. Part A

Published: May 01, 2020

Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: March 12, 2020

Microarray analysis of the gene expression profile in triethylene glycol dimethacrylate-treated human dental pulp cells.

Microarray analysis of the gene expression profile in triethylene glycol dimethacrylate-treated human dental pulp cells.

Journal: Nigerian journal of clinical practice

Published: January 06, 2018

Increased Endothelial Dysfunction and Insulin Resistance in Patients with Klinefelter Syndrome.

Increased Endothelial Dysfunction and Insulin Resistance in Patients with Klinefelter Syndrome.

Journal: Endocrine, metabolic & immune disorders drug targets

Published: August 19, 2017

Association of retinal vein occlusion, homocysteine, and the thrombophilic mutations in a Turkish population: A case-control study.

Association of retinal vein occlusion, homocysteine, and the thrombophilic mutations in a Turkish population: A case-control study.

Journal: Ophthalmic genetics

Published: January 14, 2017

Showing 1-12 of 25

Last Updated: 09/26/2026