Sı̇bel Aylı̇n Uğur İşerı̇
Istanbul Kültür University(TR)HUN-REN Institute of Experimental Medicine(HU)Istanbul University(TR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Neurological diseases and metabolism, Genomics and Rare Diseases, Hereditary Neurological Disorders, RNA regulation and disease
Most-Cited Works
- → Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis(2006)270 cited
- → Seeing clearly: the dominant and recessive nature ofFOXE3in eye developmental anomalies(2009)88 cited
- → Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation(2008)81 cited
- → A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures(2011)68 cited
- → Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1(2009)48 cited
- → Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy(2010)39 cited