1. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. (19th July 2022) Authors: Reilly, Madeline Louise; Ain, Noor ul; Muurinen, Mari; Tata, Alice; Huber, Céline; Simon, Marleen; Ishaq, Tayyaba; Shaw, Nick; Rusanen, Salla; Pekkinen, Minna; Högler, Wolfgang; Knapen, Maarten F. C. M.; van den Born, Myrthe; Saunier, Sophie; Naz, Sadaf; Cormier‐Daire, Valérie; Benmerah, Alexandr... Journal: Journal of bone and mineral research Issue: Volume 37:Number 9(2022) Page Start: 1642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1. Issue 5 (26th June 2020) Authors: Ain, Noor Ul; Baroncelli, Marta; Costantini, Alice; Ishaq, Tayyaba; Taylan, Fulya; Nilsson, Ola; Mäkitie, Outi; Naz, Sadaf Journal: Journal of medical genetics Issue: Volume 58:Issue 5(2021) Page Start: 351 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗