Didem Yücel Yılmaz

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

Sevil Oskay Halaçlı, Deniz Çağdaş, Cağman Sun-Tan et al. · Clinical Immunology · 2015 · 87 citations

Life Sciences, Genetics, Immunology +12

Homozygous <i>GNAL</i> mutation associated with familial childhood-onset generalized dystonia

Ikuo Masuho, Mingyan Fang, Chunyu Geng et al. · Neurology Genetics · 2016 · 36 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency

Nurgün Kandemir, Didem Yücel Yılmaz, E. Nazlı Gönç et al. · The Journal of Steroid Biochemistry and Molecular Biology · 2016 · 31 citations

Life Sciences, Genetics, Molecular Genetics +16

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Mehmet Karaca, Burcu Öztürk Hişmi, Rıza Köksal Özgül et al. · Gene · 2013 · 19 citations

Medicine, Neurology, Pediatrics +9

Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency

Mustafa Kılıç, Çiğdem Seher Kasapkara, Didem Yücel Yılmaz et al. · Metabolic Brain Disease · 2019 · 17 citations

Life Sciences, Genetics, Molecular Genetics +17