Gizem Ürel Demir

Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability

Ekim Z. Taşkıran, Beren Karaosmanoğlu, Can Koşukçu et al. · Journal of Intellectual Disability Research · 2021 · 26 citations

Peters Plus syndrome: a recognizable clinical entity

Gizem Ürel Demir, Naz Güleray Lafcı, Özlem Akgün Doğan et al. · The Turkish Journal of Pediatrics · 2020 · 13 citations · Full text

Genetics, Genetic Epidemiology, Pathology +18

Manual ability and upper limb performance in nonambulatory stage of Duchenne muscular dystrophy

Gizem Ürel Demir, Numan Bulut, Öznur Yılmaz et al. · Archives de Pédiatrie · 2020 · 10 citations

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype

Gizem Ürel Demir, Pelin Özlem Şimşek‐Kiper, İbrahim Öncel et al. · European Journal of Paediatric Neurology · 2021 · 10 citations