1. Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss. (3rd June 2022) Authors: Višnjar, Tanja; Maver, Aleš; Writzl, Karin; Maloku, Ornela; Bergant, Gaber; Jaklič, Helena; Neubauer, David; Fogolari, Federico; Pečarič Meglič, Nuška; Peterlin, Borut Journal: Neurology Issue: Volume 8:Number 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage. Issue 12 (23rd October 2019) Authors: Lovrečić, Luca; Pereza, Nina; Jaklič, Helena; Ostojić, Saša; Peterlin, Borut Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 12(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗