Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

por Weiss, Karin, Kurolap, Alina, Paperna, Tamar, Mory, Adi, Steinberg, Maya, Hershkovitz, Tova, Ekhilevitch, Nina, Baris, Hagit N.
Publicado 2018

Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

por Kellner, Shai, Abbasi, Abeer, Carmi, Ido, Heinrich, Ronit, Garin-Shkolnik, Tali, Hershkovitz, Tova, Giladi, Moshe, Haitin, Yoni, Johannesen, Katrine M, Steensbjerre Møller, Rikke, Berlin, Shai
Publicado 2021

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

por Hershkovitz, Tova, Kurolap, Alina, Tal, Galit, Paperna, Tamar, Mory, Adi, Staples, Jeffrey, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Dumin, Elena, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit
Publicado 2020

Vici syndrome in Israel: Clinical and molecular insights

por Chorin, Odelia, Hirsch, Yoel, Rock, Rachel, Salzer Sheelo, Liat, Goldberg, Yael, Mandel, Hanna, Hershkovitz, Tova, Fleischer, Nicole, Greenbaum, Lior, Katz, Uriel, Barel, Ortal, Hamed, Nasrin, Ben-Zeev, Bruria, Greenberger, Shoshana, Nasser Samra, Nadra, Stern Zimmer, Michal, Raas-Rothschild, Annick, Pode-Shakked, Ben
Publicado 2022