Semra Hız
Dokuz Eylül University(TR)Gaziosmanpaşa Taksim Eğitim ve Araştırma Hastanesi(TR)
Publications by Year
Research Areas
Epilepsy research and treatment, Mitochondrial Function and Pathology, Neonatal and fetal brain pathology, Metabolism and Genetic Disorders, RNA regulation and disease
Most-Cited Works
- → Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss(2021)40 cited
- → Sleep Structure in Children With Attention-Deficit/Hyperactivity Disorder(2015)38 cited
- Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.(2018)
- → Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families(2020)19 cited
- → Brain abscess caused by Lactococcus lactis cremoris in a child(2011)18 cited
- → Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family(2019)17 cited
- → The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice(2021)16 cited
- → Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy(2021)16 cited
- → Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease(2020)16 cited
- → Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG(2020)16 cited