Huseyin Kilic - Publications

Revealing BCKDK Deficiency Under Autism: A Case Report, Therapeutic Outcomes, and Literature Review.

Journal: Turkish archives of pediatrics

Published: August 01, 2026

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

Journal: Journal of clinical medicine

Published: June 06, 2026

Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases.

Journal: Life (Basel, Switzerland)

Published: February 13, 2026

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.

Journal: Clinical genetics

Published: February 10, 2026

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review.

Journal: International journal of molecular sciences

Published: December 09, 2025

Plasma Exchange as a Bridge to Recovery in Severe Pediatric Neurological Diseases in Pediatric Intensive Care.

Journal: Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy

Published: November 25, 2025

Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.

Journal: The Journal of rheumatology

Published: July 11, 2024

Exploring the Influence of Concurrent Nutritional Therapy on Children with Spinal Muscular Atrophy Receiving Nusinersen Treatment.

Journal: Children (Basel, Switzerland)

Published: June 23, 2024

Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome.

Journal: Molecular biology reports

Published: February 11, 2024

The İmportance of hematological parameters in the prognosis of patients with severe COVID-19, A single-center retrospective study.

Journal: Nigerian journal of clinical practice

Published: October 04, 2023

Are Interictal Discharges Associated with Neuronal Cell Loss in Electrical Status Epilepticus in Sleep?

Journal: Turkish archives of pediatrics

Published: September 20, 2022

Increased Frequency of Febrile Seizures in Two Periodic Fever Syndromes: Familial Mediterranean Fever and PFAPA Syndrome.

Journal: Turkish archives of pediatrics

Published: July 13, 2022