Bilgen B. Geckinli
Ihlas Marmara Evleri - I. Kisim, Turkey
Last Updated: 09/26/2026
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Found 37 publications
Functional impact of a novel intronic TG variant in congenital goiter and thyroid dyshormonogenesis.
Functional impact of a novel intronic TG variant in congenital goiter and thyroid dyshormonogenesis.
Journal: Hormone research in paediatrics
Published: January 30, 2026
Extreme ambient temperatures and seizure outcomes in children with epilepsy: insights from a survey in Turkey.
Journal: Epilepsy & behavior : E&B
Published: November 03, 2025
Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.
Journal: European journal of pediatrics
Published: July 29, 2025
Genetic Characterization of Turkish Patients with Pituitary Neuroendocrine Tumors.
Journal: Turkish neurosurgery
Published: March 25, 2025
Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.
Journal: Clinical genetics
Published: February 20, 2025
A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly.
Journal: Molecular syndromology
Published: October 18, 2024
Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.
Journal: American journal of medical genetics. Part A
Published: May 08, 2024
A case of Carvajal syndrome presenting with dilated cardiomyopathy.
Journal: Cardiology in the young
Published: March 04, 2024
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.
Journal: Ophthalmic genetics
Published: January 08, 2024
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
Journal: Journal of medical virology
Published: December 09, 2022
Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability.
Journal: Balkan journal of medical genetics : BJMG
Published: October 17, 2022
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Journal: American journal of human genetics
Published: September 19, 2022
Last Updated: 09/26/2026