Browsing Molekylærbiologi by Author "Zohoorian Izadpanah, Negar"
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Zohoorian Izadpanah, Negar (Master thesis / Masteroppgave, 2019)Whole exome sequencing was performed to identify putative disease-causing variants in a girl with macrocephaly, epilepsy and severe mental retardation, who had an unknown molecular diagnosis. Compound heterozygous SZT2 ...