1. A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3. Issue 2 (5th May 2022) Authors: Halperin, Daniel; Agam, Nadav; Hallak, Maher; Feinstein, Miora; Drabkin, Max; Yogev, Yuval; Wormser, Ohad; Shavit, Eitan; Gradstein, Libe; Shelef, Ilan; Mijalovsky, Aanalia; Flusser, Hagit; Birk, Ohad S. Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 123 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). Issue 5 (27th February 2014) Authors: Feinstein, Miora; Flusser, Hagit; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Lev, Dorit; Agamy, Orly; Cohen, Idan; Kadir, Rotem; Sivan, Sara; Leshinsky-Silver, Esther; Markus, Barak; Birk, Ohad S Journal: Journal of medical genetics Issue: Volume 51:Issue 5(2014) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗