Rıza Köksal Özgül
Hacettepe University(TR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genetic and Kidney Cyst Diseases, Genomics and Rare Diseases, Folate and B Vitamins Research
Most-Cited Works
- → Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction(2015)134 cited
- → Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa(2011)116 cited
- → STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation(2015)84 cited
- → Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey(2004)60 cited
- → The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey(2014)52 cited
- → Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine(2016)41 cited
- → Mutations in the G6PC3 gene cause Dursun syndrome(2010)39 cited
- → Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening(2015)38 cited
- → Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish Families(2001)37 cited
- → The genotypic and phenotypic spectrum of MTO1 deficiency(2017)37 cited