More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeTibbe Dhooge, Fransiska Malfait, Pelin Özlem Şimşek‐Kiper et al.|Human Mutation|2021Cited by 31
More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeTibbe Dhooge, Fransiska Malfait, M Bonduelle et al.|Unknown|2020Cited by 3
Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinksÖzge Berna Gültekin‐Zaim, Bülent Elibol, Pelin Özlem Şimşek‐Kiper et al.|Movement Disorders Clinical Practice|2023Cited by 3
Genotypic and Phenotypic Landscape of <scp>KBG</scp> Syndrome: A Study of 23 Turkish IndividualsEnise Avcı Durmuşalioğlu, Tahir Atık, Pelin Özlem Şimşek‐Kiper et al.|American Journal of Medical Genetics Part A|2025Cited by 0