Savas Baris
Aydin, 09020, Turkey
Last Updated: 09/26/2026
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Found 8 publications
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
Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.
Journal: International journal of molecular sciences
Published: January 09, 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
PGAP1-Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: May 05, 2025
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Journal: Clinical genetics
Published: December 17, 2024
A novel mutation in DNMT3B gene causing ICF1 syndrome in an infant with refractory thrombocytopenia.
A novel mutation in DNMT3B gene causing ICF1 syndrome in an infant with refractory thrombocytopenia.
Journal: Clinical immunology (Orlando, Fla.)
Published: July 25, 2023
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.
Journal: Revista da Associacao Medica Brasileira (1992)
Published: July 11, 2023
The impact of the IL-1β, IL-1Ra, IL-2, IL-6 and IL-10 gene polymorphisms on the development of Behcet's disease and their association with the phenotype.
Journal: Medicina clinica
Published: April 29, 2015
Showing 1-8 of 8
Last Updated: 09/26/2026