Adnan Yuksel

Istanbul, 34015, Turkey

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 49 publications

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization.

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization.

Journal: International journal of molecular sciences

Published: July 09, 2026

Title Not Found

Title Not Found

Journal: Klinische Padiatrie

Published: June 16, 2026

Neuromuscular Electrical Stimulation in Brachial Plexus Birth Injury Rehabilitation: A Systematic Review.

Neuromuscular Electrical Stimulation in Brachial Plexus Birth Injury Rehabilitation: A Systematic Review.

Journal: Medicina (Kaunas, Lithuania)

Published: May 17, 2026

The impact of educational and behavioral self-management interventions for children diagnosed with epilepsy and their families on disease management, quality of life, and psychosocial outcomes: a systematic review and meta-analysis.

The impact of educational and behavioral self-management interventions for children diagnosed with epilepsy and their families on disease management, quality of life, and psychosocial outcomes: a systematic review and meta-analysis.

Journal: Epilepsy & behavior : E&B

Published: February 06, 2026

CHAMP1-Related Neurodevelopmental Disorder: Two Turkish Cases with Novel Truncating Variants and Literature Review.

CHAMP1-Related Neurodevelopmental Disorder: Two Turkish Cases with Novel Truncating Variants and Literature Review.

Journal: Molecular syndromology

Published: December 31, 2025

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Journal: Life (Basel, Switzerland)

Published: October 27, 2025

Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.

Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.

Journal: Balkan journal of medical genetics : BJMG

Published: April 05, 2021

New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.

New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.

Journal: Acta biochimica Polonica

Published: May 08, 2020

The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency.

The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency.

Journal: Journal of molecular neuroscience : MN

Published: November 04, 2019

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

Journal: Annals of neurology

Published: August 13, 2019

A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing.

A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing.

Journal: Experimental and therapeutic medicine

Published: May 23, 2019

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.

Journal: Gene

Published: June 24, 2015

Showing 1-12 of 49

Last Updated: 09/26/2026