Hillevi Lindelöf

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

A. Nordgren, K. Girisha, G. Bhavani, 2023, NPJ genomic medicine.

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

L. Levin, H. Helgadottir, A. Nordgren, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.