Esma Sengenc

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 15 publications

Molecular Analysis of SCN1A Gene Variants Associated with Dravet Syndrome: Implications for Diagnosis and Management.

Molecular Analysis of SCN1A Gene Variants Associated with Dravet Syndrome: Implications for Diagnosis and Management.

Journal: Turkish archives of pediatrics
Published: August 01, 2026

Neurological Complications in Pediatric Takayasu Arteritis: Insights from a Single-Center Experience.

Neurological Complications in Pediatric Takayasu Arteritis: Insights from a Single-Center Experience.

Journal: Journal of clinical medicine
Published: June 06, 2026

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

Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.

Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: March 15, 2026

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

Correction: Can the BIG score reliably predict outcomes in pediatric traumatic brain injury?

Correction: Can the BIG score reliably predict outcomes in pediatric traumatic brain injury?

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: May 17, 2025

Can the BIG score reliably predict outcomes in pediatric traumatic brain ınjury?

Can the BIG score reliably predict outcomes in pediatric traumatic brain ınjury?

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: October 09, 2024

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 07, 2022

Clinical and molecular findings in 6 Turkish cases with Krabbe disease.

Clinical and molecular findings in 6 Turkish cases with Krabbe disease.

Journal: The Turkish journal of pediatrics
Published: March 14, 2022

First Case of MELAS Syndrome Presenting with Local Brain Edema Requiring Decompressive Craniectomy.

First Case of MELAS Syndrome Presenting with Local Brain Edema Requiring Decompressive Craniectomy.

Journal: Turkish neurosurgery
Published: October 19, 2021

Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.

Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.

Journal: Journal of human genetics
Published: October 10, 2021

Is Waist-height Ratio Associated with Thyroid Antibody Levels in Children with Obesity?

Is Waist-height Ratio Associated with Thyroid Antibody Levels in Children with Obesity?

Journal: Journal of clinical research in pediatric endocrinology
Published: October 02, 2020
Showing 1-12 of 15

Last Updated: 09/26/2026