1. Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features. (May 2020) Authors: Blumkin, Lubov; Leibovitz, Zvi; Krajden-Haratz, Karina; Arad, Ayala; Yosovich, Keren; Gindes, Liat; Zerem, Ayelet; Ben-Sira, Liat; Lev, Dorit; Nissenkorn, Andrea; Kidron, Dvora; Dobyns, William B.; Malinger, Gustavo; Bahi-Buisson, Nadia; Leventer, Richard J.; Lerman-Sagie, Tally Journal: European journal of paediatric neurology Issue: Volume 26(2020) Page Start: 46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?. Issue 10 (17th August 2020) Authors: Andelman‐Gur, Michal M.; Leventer, Richard J; Hujirat, Mohammad; Ganos, Christos; Yosovich, Keren; Carmi, Nirit; Lev, Dorit; Nissenkorn, Andreea; Dobyns, William B.; Bhatia, Kailash; Lerman‐Sagie, Tally; Blumkin, Lubov Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Brain white matter abnormalities associated with copy number variants. Issue 1 (17th October 2019) Authors: Vigdorovich, Nitzan; Ben‐Sira, Liat; Blumkin, Lubov; Precel, Ronit; Nezer, Ifat; Yosovich, Keren; Cross, Zachary; Vanderver, Adeline; Lev, Dorit; Lerman‐Sagie, Tally; Zerem, Ayelet Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical phenotypes of infantile onset CACNA1A-related disorder. (January 2021) Authors: Gur-Hartman, Tamar; Berkowitz, Oren; Yosovich, Keren; Roubertie, Agathe; Zanni, Ginevra; Macaya, Alfons; Heimer, Gali; Dueñas, Belén Pérez; Sival, Deborah A.; Pode-Shakked, Ben; López-Laso, Eduardo; Humbertclaude, Véronique; Riant, Florence; Bosco, Luca; Cayron, Lital Bachar; Nissenkorn, Andreea;... Journal: European journal of paediatric neurology Issue: Volume 30(2021) Page Start: 144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Congenital Mirror Movements Associated With Brain Malformations. (June 2021) Authors: Nissenkorn, Andreea; Yosovich, Keren; Leibovitz, Zvi; Hartman, Tamar Gur; Zelcer, Itay; Hugirat, Mohammad; Lev, Dorit; Lerman-Sagie, Tally; Blumkin, Lubov Journal: Journal of child neurology Issue: Volume 36:Number 7(2021) Page Start: 545 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the natural history of CASK‐related disorders to the prenatal period. (29th September 2022) Authors: Gafner, Michal; Boltshauser, Eugen; D'Abrusco, Fulvio; Battini, Roberta; Romaniello, Romina; D'Arrigo, Stefano; Zanni, Ginevra; Leibovitz, Zvi; Yosovich, Keren; Lerman‐Sagie, Tally Other Names: Buchignani Bianca investigator.; Gindes Liat investigator.; Lev Dorit investigator.; Shariv Avi investigator.; Schreiber Letizia investigator.; Ciaccio Claudia investigator.; Cerovac Natasa investigator.; Brankovic Vesna investigator.; Valente Enza Maria investigator.; Bertini Enrico Silvio inves... Journal: Developmental medicine & child neurology Issue: Volume 65:Number 4(2023) Page Start: 544 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum. (August 2019) Authors: Hady-Cohen, Ronen; Maharshak, Idit; Michelson, Marina; Yosovich, Keren; Lev, Dorit; Constantini, Shlomi; Leiba, Hana; Lerman-Sagie, Tally; Blumkin, Lubov Journal: Journal of child neurology Issue: Volume 34:Number 9(2019:Sep.) Page Start: 506 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Glycogen Debrancher Enzyme Deficiency Myopathy. Issue 4 (June 2021) Authors: Sadeh, Menachem; Yosovich, Keren; Dabby, Ron Journal: Journal of clinical neuromuscular disease Issue: Volume 22:Issue 4(2021:Jun.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A. Issue 12 (8th October 2022) Authors: Pavlova, Elena V.; Lev, Dorit; Michelson, Marina; Yosovich, Keren; Michaeli, Hila Gur; Bright, Nicholas A.; Manna, Paul T.; Dickson, Veronica Kane; Tylee, Karen L.; Church, Heather J.; Luzio, J. Paul; Cox, Timothy M. Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 2265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A gene. (April 2016) Authors: Dabby, Ron; Sadeh, Menachem; Broitman, Yelena; Yosovich, Keren; Dickman, Ram; Leshinsky-Silver, Esther Journal: Journal of clinical neuroscience Issue: Volume 26(2016:Apr.) Page Start: 84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗