1. Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. (May 2019) Authors: Weisz-Hubshman, M.; Meirson, H.; Michaelson-Cohen, R.; Beeri, R.; Tzur, S.; Bormans, C.; Modai, S.; Shomron, N.; Shilon, Y.; Banne, E.; Orenstein, N.; Konen, O.; Marek-Yagel, D.; Veber, A.; Shalva, N.; Imagawa, E.; Matsumoto, N.; Lev, D.; Lerman Sagie, T.; Raas-Rothschild, A. Journal: European journal of paediatric neurology Issue: Volume 23:Number 3(2019:May) Page Start: 418 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing. Issue 6 (3rd August 2017) Authors: Sharony, R.; Borochowitz, Z.; Cohen, L.; Shtorch‐Asor, A.; Rosenfeld, R.; Modai, S.; Reinstein, E. Journal: Clinical genetics Issue: Volume 92:Issue 6(2017) Page Start: 645 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗