Cengiz Yalcinkaya

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 51 publications

Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4.

Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4.

Journal: Turkish archives of pediatrics

Published: April 27, 2026

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.

Journal: Clinical genetics

Published: February 10, 2026

Evolution into spike-and-wave activation in sleep in patients with self-limited focal epilepsies.

Evolution into spike-and-wave activation in sleep in patients with self-limited focal epilepsies.

Journal: Seizure

Published: August 21, 2025

Pediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects.

Pediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects.

Journal: Annals of Indian Academy of Neurology

Published: July 10, 2025

Are the seizures under control or unnoticed? Electroclinical evaluation of epilepsy with eyelid myoclonia.

Are the seizures under control or unnoticed? Electroclinical evaluation of epilepsy with eyelid myoclonia.

Journal: Epilepsy & behavior : E&B

Published: March 03, 2024

A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.

A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.

Journal: Molecular syndromology

Published: September 27, 2023

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Journal: Nature

Published: September 20, 2023

Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10.

Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10.

Journal: Pediatric neurology

Published: August 21, 2023

Serum Levels of Neuropeptides in Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep.

Serum Levels of Neuropeptides in Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep.

Journal: Pediatric neurology

Published: November 29, 2022

The seizures that wake up with the patient: The effect of sleep deprivation and short sleep on epilepsy with eyelid myoclonia.

The seizures that wake up with the patient: The effect of sleep deprivation and short sleep on epilepsy with eyelid myoclonia.

Journal: Neurophysiologie clinique = Clinical neurophysiology

Published: October 01, 2022

Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.

Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.

Journal: Turkish archives of pediatrics

Published: August 11, 2022

Ocrelizumab in pediatric multiple sclerosis.

Ocrelizumab in pediatric multiple sclerosis.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 29, 2022

Showing 1-12 of 51

Last Updated: 09/26/2026