Hamide B. Celebi-Gerik
Balikesir, Turkey
Last Updated: 09/26/2026
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Found 16 publications
The Impact of 8p23 Copy Number Variations on Neurodevelopmental Aetiology: A Focus on Rare Deletions.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: February 03, 2026
Keipert syndrome beyond classical features: novel GPC4 variant associated with epilepsy but preserved cognition.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: November 17, 2025
A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complications.
Journal: Journal of human genetics
Published: November 06, 2025
The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: June 30, 2025
First Reported Co-Occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review.
Journal: Molecular syndromology
Published: April 12, 2025
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.
Journal: Neuromuscular disorders : NMD
Published: March 02, 2025
Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene.
Journal: Developmental neurobiology
Published: January 07, 2025
Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder.
Journal: Molecular syndromology
Published: October 30, 2024
Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: January 17, 2024
Investigation of Genetic Changes in Three Families with Bipolar Disease.
Journal: Molecular syndromology
Published: December 25, 2023
Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders.
Journal: Developmental neurobiology
Published: November 28, 2023
A novel CACNA1A mutation in a neonate with severe encephalopathy at birth.
Journal: Acta neurologica Belgica
Published: September 25, 2023
Last Updated: 09/26/2026