Gönül Oğur
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Sexual Differentiation and Disorders, Hedgehog Signaling Pathway Studies, Fetal and Pediatric Neurological Disorders
Most-Cited Works
- → KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes(2011)241 cited
- → Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis(1999)210 cited
- → Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers(2006)162 cited
- → Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders(2013)83 cited
- Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas.(2001)
- → Mutations in the HumanUBR1Gene and the Associated Phenotypic Spectrum(2014)56 cited
- → Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF)(1998)48 cited
- → Chromosomal and Y‐chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions(2019)47 cited
- → Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly(2016)46 cited
- → Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14)(2002)44 cited