Serdar Ceylaner
Ankara, Turkey
Last Updated: 09/26/2026
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Found 230 publications
Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.
Journal: Journal of human genetics
Published: May 24, 2026
Prolonged episodic ataxia associated with a SCN2A variant: intrafamilial phenotypic heterogeneity and adult vestibulo-cerebellar presentation.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: March 06, 2026
Clinical, immunological, treatment characteristics, and outcomes in 22 patients with major histocompatibility complex class II deficiency.
Journal: Frontiers in immunology
Published: February 14, 2026
Hypomelanosis of Ito with Local Overgrowth due to a Somatic Complex MTOR Gene Variant Consistent with Smith-Kingsmore Syndrome in One of Monozygotic Twins Detectable Only by RNA Sequencing: A Case Report.
Journal: Molecular syndromology
Published: February 11, 2026
Generation and characterization of human induced pluripotent stem cell line AUSCIi001-A from spinal muscular atrophy patient.
Journal: Stem cell research
Published: January 30, 2026
MYH2 as a Potential Modifier of Clinical Severity in Facioscapulohumeral Muscular Dystrophy.
Journal: Journal of molecular neuroscience : MN
Published: January 21, 2026
Further delineation of the phenotype and genotype in a newly identified PAN2-related disorder.
Journal: Journal of human genetics
Published: January 11, 2026
Exploratory Associations of Targeted Genetic Variants with Cephalometric Airway Parameters in Children with Skeletal Class II Sleep-Disordered Breathing Symptoms.
Journal: Children (Basel, Switzerland)
Published: January 09, 2026
Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?
Journal: Journal of neuromuscular diseases
Published: November 12, 2025
From Primary Amenorrhea to the Desert Hedgehog Gene: Novel Homozygous Variant in 46,XY Gonadal Dysgenesis.
Journal: Journal of pediatric and adolescent gynecology
Published: October 29, 2025
TBXAS1 deficiency: a novel monogenic cause of chronic nonbacterial osteomyelitis responsive to COX inhibitors.
Journal: Expert review of clinical immunology
Published: October 28, 2025
Spinocerebellar ataxia type 40 presenting with isolated cervical dystonia: expanding the phenotypic spectrum.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 27, 2025
Last Updated: 09/26/2026