Kanay Yararbaş

Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1

Taiko Takahashi, Sevcan Mercan, Takayuki Sassa et al. · Brain and Development · 2022 · 26 citations

Life Sciences, Genetics, Neuroscience +10

DNA fragmentation index and human papilloma virus in males with previous assisted reproductive technology failures

Semih Tangal, Yasemin Taşçı, Emre Pabuçcu et al. · Urology Research and Practice · 2018 · 22 citations · Full text

Medicine, Infectious Diseases, In Vitro Fertilization +16

Prevalence and clinical/molecular characteristics of <i>PTEN</i> mutations in Turkish children with autism spectrum disorders and macrocephaly

Hande Kaymakçalan, İlyas Kaya, Nagihan Cevher Binici et al. · Molecular Genetics & Genomic Medicine · 2021 · 19 citations · Full text

Medicine, Genetics, Pediatrics +17

Sarcolemmal Alpha and Gamma Sarcoglycan Protein Deficiencies in Turkish Siblings With a Novel Missense Mutation in the Alpha Sarcoglycan Gene

Hülya Tosun Yıldırım, Aysel Öztürk, Kanay Yararbaş et al. · Pediatric Neurology · 2014 · 17 citations

Life Sciences, Genetics, Molecular Genetics +11

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Munis Dündar, Umut Fahrioğlu, Saliha Handan Yıldız et al. · Functional & Integrative Genomics · 2022 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14