Yesim Kesim
Postdoctoral Researcher
Recent publications
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Journal article
Kesim Y. et al, (2023), European journal of human genetics : EJHG, 31, 1175 - 1180
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Journal article
Kesim Y. et al, (2023), European journal of human genetics : EJHG, 31, 1196 - 1198
Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Journal article
Susgun S. et al, (2023), Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 44, 2527 - 2540
Clinical and genetic analysis of new cases provides further characterisation of ALDH1A3-related anophthalmia/microphthalmia
Conference paper
Kesim Y. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 118 - 119
SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME
Journal article
Ornek Erguzeloglu C. et al, (2020), JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, 83, 177 - 183