Hulya M. Genc

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 15 publications

Efficacy of synthetic ACTH in confirmed and presumed monogenic developmental and epileptic encephalopathies.

Efficacy of synthetic ACTH in confirmed and presumed monogenic developmental and epileptic encephalopathies.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: May 04, 2026

Vanishing White Matter with Cerebral Salt Wasting: A Case Report.

Vanishing White Matter with Cerebral Salt Wasting: A Case Report.

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

Electroclinical phenotypes-genetic characterization of developmental and epileptic encephalopathies in a cohort study.

Electroclinical phenotypes-genetic characterization of developmental and epileptic encephalopathies in a cohort study.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: September 23, 2025

Comparison of Nusinersen Monotherapy Versus Combination Therapy With Nusinersen and Onasemnogene Abeparvovec in Spinal Muscular Atrophy Type 1 Patients With Two SMN2 Copies: A Multicenter Study From Türkiye.

Comparison of Nusinersen Monotherapy Versus Combination Therapy With Nusinersen and Onasemnogene Abeparvovec in Spinal Muscular Atrophy Type 1 Patients With Two SMN2 Copies: A Multicenter Study From Türkiye.

Journal: Muscle & nerve

Published: July 07, 2025

The long-term efficacy of nusinersen on respiratory functions in children with symptomatic spinal muscular atrophy type 1.

The long-term efficacy of nusinersen on respiratory functions in children with symptomatic spinal muscular atrophy type 1.

Journal: Turkish journal of medical sciences

Published: November 22, 2024

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

Journal: Pediatric neurology

Published: September 10, 2023

Association of epilepsy with neuroimaging patterns in children with cerebral palsy.

Association of epilepsy with neuroimaging patterns in children with cerebral palsy.

Journal: Acta neurologica Belgica

Published: June 08, 2023

Chronic inflammatory demyelinating neuropathy after etanercept therapy in the course of juvenile idiopathic arthritis.

Chronic inflammatory demyelinating neuropathy after etanercept therapy in the course of juvenile idiopathic arthritis.

Journal: The Turkish journal of pediatrics

Published: March 03, 2023

Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations.

Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations.

Journal: European journal of endocrinology

Published: March 23, 2022

Neurodevelopmental Outcome in Patients with Typical Imaging Features of Injury as a Result of Neonatal Hypoglycemia.

Neurodevelopmental Outcome in Patients with Typical Imaging Features of Injury as a Result of Neonatal Hypoglycemia.

Journal: Noro psikiyatri arsivi

Published: August 17, 2021

Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey.

Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey.

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

Published: June 15, 2020

Showing 1-12 of 15

Last Updated: 09/26/2026