Gülsüm Kayhan
Gazi University(TR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Connective tissue disorders research, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis(2016)71 cited
- → A Duplication Upstream of SOX9 Associated with <i>SRY</i> Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report(2019)10 cited
- → Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings(2013)10 cited
- → Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome(2018)10 cited
- → Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene(2017)10 cited
- → An eight‐case 1q21 region series: novel aberrations and clinical variability with new features(2019)9 cited
- OCULOECTODERMAL SYNDROME: A NEW CASE WITH GIANT CELL GRANULOMAS AND NON-OSSIFYING FIBROMAS.(2016)
- → Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility(2018)7 cited
- → Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey(2021)7 cited
- → Two distinct syndromic children with T-acute lymphoblastic leukemia: Noonan syndrome and Sotos syndrome(2022)5 cited