11. Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report. Issue 4 (April 2016) Authors: Weiss, Batia; Krauthammer, Alexander; Soudack, Michalle; Lahad, Avishay; Sarouk, Ifat; Somech, Raz; Heimer, Gali; Ben-Zeev, Bruria; Nissenkorn, Andreea Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 62:Issue 4(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report. Issue 4 (April 2016) Authors: Weiss, Batia; Krauthammer, Alexander; Soudack, Michalle; Lahad, Avishay; Sarouk, Ifat; Somech, Raz; Heimer, Gali; Ben-Zeev, Bruria; Nissenkorn, Andreea Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 62:Issue 4(2016) Page Start: 550 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome. Issue 5 (4th October 2018) Authors: Guemez‐Gamboa, Alicia; Çağlayan, Ahmet Okay; Stanley, Valentina; Gregor, Anne; Zaki, Maha S.; Saleem, Sahar N.; Musaev, Damir; McEvoy‐Venneri, Jennifer; Belandres, Denice; Akizu, Naiara; Silhavy, Jennifer L.; Schroth, Jana; Rosti, Rasim Ozgur; Copeland, Brett; Lewis, Steven M.; Fang, Rebecca; Iss... Journal: Annals of neurology Issue: Volume 84:Issue 5(2018) Page Start: 638 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2. Issue 10 (3rd October 2021) Authors: Fraiberg, Milana; Tamim-Yecheskel, Bat-Chen; Kokabi, Kamilya; Subic, Nemanja; Heimer, Gali; Eck, Franziska; Nalbach, Karsten; Behrends, Christian; Ben-Zeev, Bruria; Shatz, Oren; Elazar, Zvulun Journal: Autophagy Issue: Volume 17:Issue 10(2021) Page Start: 3096 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia. Issue 2 (15th November 2019) Authors: Heimer, Gali; van Woerden, Geeske M.; Barel, Ortal; Marek‐Yagel, Dina; Kol, Nitzan; Munting, Johannes B.; Borghei, Minoeshka; Atawneh, Osama M.; Nissenkorn, Andreea; Rechavi, Gideon; Anikster, Yair; Elgersma, Ype; Kushner, Steven A.; Ben Zeev, Bruria Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 476 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Perampanel as precision therapy in rare genetic epilepsies. Issue 4 (20th February 2023) Authors: Nissenkorn, Andreea; Kluger, Gerhard; Schubert‐Bast, Susanne; Bayat, Allan; Bobylova, Marya; Bonanni, Paolo; Ceulemans, Berten; Coppola, Antonietta; Di Bonaventura, Carlo; Feucht, Martha; Fuchs, Anne; Gröppel, Gudrun; Heimer, Gali; Herdt, Brigitte; Kulikova, Sviatlana; Mukhin, Konstantin; Ni... Journal: Epilepsia Issue: Volume 64:Issue 4(2023) Page Start: 866 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Personalized treatment with retigabine for pharmacoresistant epilepsy arising from a pathogenic variant in the KCNQ2 selectivity filter. Issue 5 (16th November 2021) Authors: Nissenkorn, Andreea; Kornilov, Polina; Peretz, Asher; Blumkin, Lubov; Heimer, Gali; Ben‐Zeev, Bruria; Attali, Bernard Journal: Epileptic disorders Issue: Volume 23:Issue 5(2021) Page Start: 695 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Secondary enuresis and urological manifestations in children with ataxia telangiectasia. (November 2018) Authors: Nissenkorn, Andreea; Erlich, Tomer; Zilberman, Dorit E.; Sarouk, Ifat; Krauthammer, Alexander; Kitrey, Noam D.; Heimer, Gali; BenZeev, Bruria; Mor, Yoram Journal: European journal of paediatric neurology Issue: Volume 22:Number 6(2018:Nov.) Page Start: 1118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. (17th May 2022) Authors: Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B.S.; Augustijn, Paul B.; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J.; Bruria, Ben Zeev; Doyle, Michael G.; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele;... Journal: Neurology Issue: Volume 98:Number 20(2022) Page Start: e2046 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants. (17th May 2022) Authors: Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B.S.; Augustijn, Paul B.; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J.; Bruria, Ben Zeev; Doyle, Michael G.; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele;... Journal: Neurology Issue: Volume 98:Number 20(2022) Page Start: e2046 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗